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1. Fixed-duration venetoclax plus obinutuzumab improves quality of life and geriatric impairments in FCR-unfit patients with CLL

Author

Beckers, M. M. J., Bekker, A., Bellido, M., de Boer, F., Broers, R., Chamuleau, M., Croockewit, A. J., Dompeling, E. C., Eefting, M., van Gelder, M., Hoogendoorn, M., Houtenbos, I., Doorduijn, J. K., Droogendijk, J., van der Griend, R., de Heer, K., Henkens, C. M. A., Idink, C. A. M., Issa, D. E., van Kampen, R., Kater, A. P., Kersting, S., van der Klift, M., Laterveer, L., Levenga, H., Levin, M-D., Mous, R., Nijland, M., Nijziel, M., van Norden, Y., Posthuma, E. F. M., te Raa, G. D., Raymakers, R. A. P., Regelink, J. C., Sandberg, Y., Schaafsma, M. R., Silbermann, M. H., van der Spek, A. C., van der Straaten, H. M., Tanis, B., Terpstra, W. E., Tick, L. W., Tonino, S. H., Veelken, J. H., Velders, G. A., Vlasveld, L., Visser, H. P. J., Vos, J. M. I., Wittebol, S., van Zaanen, H. C. T., van der Straten, Lina, Stege, Claudia A. M., Kersting, Sabina, Nasserinejad, Kazem, Dubois, Julie, Dobber, Johan A., Mellink, Clemens H. M., van der Kevie-Kersemaekers, Anne-Marie F., Evers, Ludo M., de Boer, Fransien, Koene, Harry R., Schreurs, John, van der Klift, Marjolein, Velders, Gerjo A., van der Spek, Ellen, van der Straaten, Hanneke M., Hoogendoorn, Mels, van Gelder, Michel, Posthuma, Eduardus F. M., Visser, Hein P. J., Houtenbos, Ilse, Idink, Cecile A. M., Issa, Djamila E., Dompeling, Ellen C., van Zaanen, Henk C. T., Veelken, J. Hendrik, Levenga, Henriette, Tick, Lidwine W., Terpstra, Wim E., Tonino, Sanne H., Westerweel, Peter E., Langerak, Anton W., Kater, Arnon P., and Levin, Mark-David

Published
2023
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2. FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes

Author

de Poel, E., Spelier, S., Hagemeijer, M.C., van Mourik, P., Suen, S.W.F., Vonk, A.M., Brunsveld, J.E., Ithakisiou, G.N., Kruisselbrink, E., Oppelaar, H., Berkers, G., de Winter de Groot, K.M., Heida-Michel, S., Jans, S.R., van Panhuis, H., Bakker, M., van der Meer, R., Roukema, J., Dompeling, E., Weersink, E.J.M., Koppelman, G.H., Blaazer, A.R., Muijlwijk-Koezen, J.E., van der Ent, C.K., and Beekman, J.M.

Published
2023
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4. FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.

Author

Poel, E de, Spelier, S., Hagemeijer, M.C., Mourik, P. van, Suen, S.W., Vonk, A.M., Brunsveld, J.E., Ithakisiou, G.N., Kruisselbrink, E., Oppelaar, H., Berkers, G., Winter de Groot, K.M. de, Heida-Michel, S., Jans, S.R., Panhuis, H. van, Bakker, M, Meer, R. van der, Roukema, J., Dompeling, E., Weersink, E.J., Koppelman, G.H., Blaazer, A.R., Muijlwijk-Koezen, J.E., Ent, C.K. van der, Beekman, J.M., Poel, E de, Spelier, S., Hagemeijer, M.C., Mourik, P. van, Suen, S.W., Vonk, A.M., Brunsveld, J.E., Ithakisiou, G.N., Kruisselbrink, E., Oppelaar, H., Berkers, G., Winter de Groot, K.M. de, Heida-Michel, S., Jans, S.R., Panhuis, H. van, Bakker, M, Meer, R. van der, Roukema, J., Dompeling, E., Weersink, E.J., Koppelman, G.H., Blaazer, A.R., Muijlwijk-Koezen, J.E., Ent, C.K. van der, and Beekman, J.M.

Abstract

Item does not contain fulltext, BACKGROUND: Preclinical cell-based assays that recapitulate human disease play an important role in drug repurposing. We previously developed a functional forskolin induced swelling (FIS) assay using patient-derived intestinal organoids (PDIOs), allowing functional characterization of CFTR, the gene mutated in people with cystic fibrosis (pwCF). CFTR function-increasing pharmacotherapies have revolutionized treatment for approximately 85% of people with CF who carry the most prevalent F508del-CFTR mutation, but a large unmet need remains to identify new treatments for all pwCF. METHODS: We used 76 PDIOs not homozygous for F508del-CFTR to test the efficacy of 1400 FDA-approved drugs on improving CFTR function, as measured in FIS assays. The most promising hits were verified in a secondary FIS screen. Based on the results of this secondary screen, we further investigated CFTR elevating function of PDE4 inhibitors and currently existing CFTR modulators. RESULTS: In the primary screen, 30 hits were characterized that elevated CFTR function. In the secondary validation screen, 19 hits were confirmed and categorized in three main drug families: CFTR modulators, PDE4 inhibitors and tyrosine kinase inhibitors. We show that PDE4 inhibitors are potent CFTR function inducers in PDIOs where residual CFTR function is either present, or created by additional compound exposure. Additionally, upon CFTR modulator treatment we show rescue of CF genotypes that are currently not eligible for this therapy. CONCLUSION: This study exemplifies the feasibility of high-throughput compound screening using PDIOs. We show the potential of repurposing drugs for pwCF carrying non-F508del genotypes that are currently not eligible for therapies. ONE-SENTENCE SUMMARY: We screened 1400 FDA-approved drugs in CF patient-derived intestinal organoids using the previously established functional FIS assay, and show the potential of repurposing PDE4 inhibitors and CFTR modulators for rare CF genotypes.

Published
2023

5. The ADEM2 project: early pathogenic mechanisms of preschool wheeze and a randomised controlled trial assessing the gain in health and cost-effectiveness by application of the breath test for the diagnosis of asthma in wheezing preschool children.

Author

Kienhorst, S., Aarle, M.H.D. van, Jöbsis, Q., Bannier, M.A.G.E., Kersten, E.T.G., Damoiseaux, J., Schayck, O.C. van, Merkus, P.J.F.M., Koppelman, G.H., Schooten, F.J. van, Smolinska, A., Dompeling, E., Kienhorst, S., Aarle, M.H.D. van, Jöbsis, Q., Bannier, M.A.G.E., Kersten, E.T.G., Damoiseaux, J., Schayck, O.C. van, Merkus, P.J.F.M., Koppelman, G.H., Schooten, F.J. van, Smolinska, A., and Dompeling, E.

Abstract

Item does not contain fulltext, BACKGROUND: The prevalence of asthma-like symptoms in preschool children is high. Despite numerous efforts, there still is no clinically available diagnostic tool to discriminate asthmatic children from children with transient wheeze at preschool age. This leads to potential overtreatment of children outgrowing their symptoms, and to potential undertreatment of children who turn out to have asthma. Our research group developed a breath test (using GC-tof-MS for VOC-analysis in exhaled breath) that is able to predict a diagnosis of asthma at preschool age. The ADEM2 study assesses the improvement in health gain and costs of care with the application of this breath test in wheezing preschool children. METHODS: This study is a combination of a multi-centre, parallel group, two arm, randomised controlled trial and a multi-centre longitudinal observational cohort study. The preschool children randomised into the treatment arm of the RCT receive a probability diagnosis (and corresponding treatment recommendations) of either asthma or transient wheeze based on the exhaled breath test. Children in the usual care arm do not receive a probability diagnosis. Participants are longitudinally followed up until the age of 6 years. The primary outcome is disease control after 1 and 2 years of follow-up. Participants of the RCT, together with a group of healthy preschool children, also contribute to the parallel observational cohort study developed to assess the validity of alternative VOC-sensing techniques and to explore numerous other potential discriminating biological parameters (such as allergic sensitisation, immunological markers, epigenetics, transcriptomics, microbiomics) and the subsequent identification of underlying disease pathways and relation to the discriminative VOCs in exhaled breath. DISCUSSION: The potential societal and clinical impact of the diagnostic tool for wheezing preschool children is substantial. By means of the breath test, it will become possible to

Published
2023

6. FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes

Author

Longziekten onderzoek 2, Child Health, Arts Assistenten Longziekten, Beleid & Communicatie, CTI, Translational Neuroscience, Revalidatiegeneeskunde Onderwijs, Longziekten patientenzorg, Afdeling Hartcatheterisatie, Epi Kanker Team A, Longziekten, Speerpunt Child Health, Infection & Immunity, Onderzoek, Regenerative Medicine and Stem Cells, de Poel, E., Spelier, S., Hagemeijer, M. C., van Mourik, P., Suen, S. W.F., Vonk, A. M., Brunsveld, J. E., Ithakisiou, G. N., Kruisselbrink, E., Oppelaar, H., Berkers, G., de Winter de Groot, K. M., Heida-Michel, S., Jans, S. R., van Panhuis, H., Bakker, M., van der Meer, R., Roukema, J., Dompeling, E., Weersink, E. J.M., Koppelman, G. H., Blaazer, A. R., Muijlwijk-Koezen, J. E., van der Ent, C. K., Beekman, J. M., Longziekten onderzoek 2, Child Health, Arts Assistenten Longziekten, Beleid & Communicatie, CTI, Translational Neuroscience, Revalidatiegeneeskunde Onderwijs, Longziekten patientenzorg, Afdeling Hartcatheterisatie, Epi Kanker Team A, Longziekten, Speerpunt Child Health, Infection & Immunity, Onderzoek, Regenerative Medicine and Stem Cells, de Poel, E., Spelier, S., Hagemeijer, M. C., van Mourik, P., Suen, S. W.F., Vonk, A. M., Brunsveld, J. E., Ithakisiou, G. N., Kruisselbrink, E., Oppelaar, H., Berkers, G., de Winter de Groot, K. M., Heida-Michel, S., Jans, S. R., van Panhuis, H., Bakker, M., van der Meer, R., Roukema, J., Dompeling, E., Weersink, E. J.M., Koppelman, G. H., Blaazer, A. R., Muijlwijk-Koezen, J. E., van der Ent, C. K., and Beekman, J. M.

Published
2023

7. FDA-Approved Drug Screening in Patient-Derived Organoids Demonstrates Potential of Drug Repurposing for Rare Cystic Fibrosis Genotypes

Author

de Poel, E., primary, Spelier, S., additional, Hagemeijer, M.C., additional, van Mourik, P., additional, Suen, S.W.F., additional, Vonk, A.M., additional, Brunsveld, J.E., additional, Ithakisiou, G. N., additional, Kruisselbrink, E., additional, Oppelaar, H., additional, Berkers, G., additional, de Winter-de Groot, K.M., additional, Heida-Michel, S., additional, Jans, S.R., additional, van Panhuis, H., additional, Bakker, M., additional, van der Meer, R., additional, Roukema, J., additional, Dompeling, E., additional, Weersink, E.J.M., additional, Koppelman, G.H., additional, Blaazer, A.R., additional, Muijlwijk-Koezen, J.E., additional, van der Ent, C.K., additional, and Beekman, J.M., additional

Published
2022
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9. Fixed-duration venetoclax plus obinutuzumab improves quality of life and geriatric impairments in FCR-unfit patients with CLL

Author

van der Straten, Lina, Stege, Claudia A. M., Kersting, Sabina, Nasserinejad, Kazem, Dubois, Julie, Dobber, Johan A., Mellink, Clemens H. M., van der Kevie-Kersemaekers, Anne-Marie F., Evers, Ludo M., de Boer, Fransien, Koene, Harry R., Schreurs, John, van der Klift, Marjolein, Velders, Gerjo A., van der Spek, Ellen, van der Straaten, Hanneke M., Hoogendoorn, Mels, van Gelder, Michel, Posthuma, Eduardus F. M., Visser, Hein P. J., Houtenbos, Ilse, Idink, Cecile A. M., Issa, Djamila E., Dompeling, Ellen C., van Zaanen, Henk C. T., Veelken, J. Hendrik, Levenga, Henriette, Tick, Lidwine W., Terpstra, Wim E., Tonino, Sanne H., Westerweel, Peter E., Langerak, Anton W., Kater, Arnon P., Levin, Mark-David, Beckers, M. M. J., Bekker, A., Bellido, M., de Boer, F., Broers, R., Chamuleau, M., Croockewit, A. J., Dompeling, E. C., Eefting, M., van Gelder, M., Hoogendoorn, M., Houtenbos, I., Doorduijn, J. K., Droogendijk, J., van der Griend, R., de Heer, K., Henkens, C. M. A., Idink, C. A. M., Issa, D. E., van Kampen, R., Kater, A. P., Kersting, S., van der Klift, M., Laterveer, L., Levenga, H., Levin, M-D., Mous, R., Nijland, M., Nijziel, M., van Norden, Y., Posthuma, E. F. M., te Raa, G. D., Raymakers, R. A. P., Regelink, J. C., Sandberg, Y., Schaafsma, M. R., Silbermann, M. H., van der Spek, A. C., van der Straaten, H. M., Tanis, B., Terpstra, W. E., Tick, L. W., Tonino, S. H., Veelken, J. H., Velders, G. A., Vlasveld, L., Visser, H. P. J., Vos, J. M. I., Wittebol, S., and van Zaanen, H. C. T.

Abstract

•Geriatric assessments can aid in identifying patients with less physical resilience who are at increased risk of grade ≥3 adverse events.•Fixed-duration Ven-O improves HRQoL in patients with CLL with and without geriatric impairments.

Published
2023
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10. Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression

Author

Muilwijk, D., Poel, Eyleen de, Mourik, P. van, Suen, S.W., Vonk, A.M., Brunsveld, J.E., Kruisselbrink, E., Oppelaar, H., Hagemeijer, M.C., Berkers, G., Winter-de Groot, K.M. de, Heida-Michel, S., Jans, S.R., Panhuis, H. van, Eerden, M.M. van der, Meer, R. van der, Roukema, J., Dompeling, E., Weersink, E.J., Koppelman, G.H., Vries, R. de, Zomer-van Ommen, D.D., Eijkemans, M.J., Ent, C.K. van der, Beekman, J.M., Muilwijk, D., Poel, Eyleen de, Mourik, P. van, Suen, S.W., Vonk, A.M., Brunsveld, J.E., Kruisselbrink, E., Oppelaar, H., Hagemeijer, M.C., Berkers, G., Winter-de Groot, K.M. de, Heida-Michel, S., Jans, S.R., Panhuis, H. van, Eerden, M.M. van der, Meer, R. van der, Roukema, J., Dompeling, E., Weersink, E.J., Koppelman, G.H., Vries, R. de, Zomer-van Ommen, D.D., Eijkemans, M.J., Ent, C.K. van der, and Beekman, J.M.

Abstract

Item does not contain fulltext, RATIONALE: Cystic fibrosis (CF) is a monogenic life-shortening disease associated with highly variable individual disease progression which is difficult to predict. Here we assessed the association of forskolin-induced swelling (FIS) of patient-derived organoids with long-term CF disease progression in multiple organs and compared FIS with the golden standard biomarker sweat chloride concentration (SCC). METHODS: We retrieved 9-year longitudinal clinical data from the Dutch CF Registry of 173 people with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Individual CFTR function was defined by FIS, measured as the relative size increase of intestinal organoids after stimulation with 0.8 µM forskolin, quantified as area under the curve (AUC). We used linear mixed-effect models and multivariable logistic regression to estimate the association of FIS with long-term forced expiratory volume in 1 s % predicted (FEV(1)pp) decline and development of pancreatic insufficiency, CF-related liver disease and diabetes. Within these models, FIS was compared with SCC. RESULTS: FIS was strongly associated with longitudinal changes of lung function, with an estimated difference in annual FEV(1)pp decline of 0.32% (95% CI 0.11-0.54%; p=0.004) per 1000-point change in AUC. Moreover, increasing FIS levels were associated with lower odds of developing pancreatic insufficiency (adjusted OR 0.18, 95% CI 0.07-0.46; p<0.001), CF-related liver disease (adjusted OR 0.18, 95% CI 0.06-0.54; p=0.002) and diabetes (adjusted OR 0.34, 95% CI 0.12-0.97; p=0.044). These associations were absent for SCC. CONCLUSION: This study exemplifies the prognostic value of a patient-derived organoid-based biomarker within a clinical setting, which is especially important for people carrying rare CFTR mutations with unclear clinical consequences.

Published
2022

11. 665: Forskolin-induced intestinal organoid swelling predicts long-term cystic fibrosis disease progression

Author

Muilwijk, D., primary, de Poel, E., additional, van Mourik, P., additional, Suen, S., additional, Vonk, A., additional, Brunsveld, J., additional, Kruisselbrink, E., additional, Oppelaar, H., additional, Hagemeijer, M., additional, Berkers, G., additional, de Winter-de Groot, K., additional, Michel, S., additional, Jans, S., additional, van Panhuis, H., additional, van der Eerden, M., additional, van der Meer, R., additional, Roukema, J., additional, Dompeling, E., additional, Weersink, E., additional, Koppelman, G., additional, Vries, R., additional, Zomer-van Ommen, D., additional, Eijkemans, R., additional, van der Ent, C., additional, and Beekman, J., additional

Published
2021
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13. Forskolin-induced swelling of intestinal organoids predicts long-term cystic fibrosis disease progression

Author

Zomer-van Ommen Dd, Peter van Mourik, Dompeling E, Gitte Berkers, Roukema J, de Winter-de Groot Km, Brunsveld Jb, Annelotte M. Vonk, Jans, Sylvia W.F. Suen, Sabine Michel, Weersink Ej, de Poel E, van der Ent Kk, Evelien Kruisselbrink, Marne C. Hagemeijer, Gerard H. Koppelman, Jeffrey M. Beekman, Vries R, Eijkemans Rj, van Panhuis H, H. Oppelaar, D. Muilwijk, van de Meer R, and van der Eerden Mm

Subjects
Forskolin, biology, business.industry, Disease, medicine.disease, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, chemistry.chemical_compound, Liver disease, chemistry, Diabetes mellitus, Cancer research, biology.protein, Organoid, Biomarker (medicine), Medicine, business
Abstract

Patient-derived organoids hold great potential as predictive biomarker for disease expression or therapeutic response. Here, we used intestinal organoids to estimate individual cystic fibrosis transmembrane conductance regulator (CFTR) function of people with cystic fibrosis, a monogenic life-shortening disease associated with more than 2000 CFTR mutations and highly variable disease progression. In vitro CFTR function in CF intestinal organoids of 176 individuals with diverse CFTR mutations was quantified by forskolin induced swelling and was strongly associated with longitudinal changes of lung function and development of pancreatic insufficiency, CF-related liver disease and diabetes. This association was not observed when the commonly used biomarker of CFTR function sweat chloride concentration was used. The data strongly exemplifies the value of an organoid-based biomarker in a clinical disease setting and supports the prognostic value of forskolin induced swelling of intestinal organoids, especially for people with CF who have rare CFTR genotypes with unclear clinical consequences.

Published
2021

15. Forskolin-induced swelling of intestinal organoids predicts long-term cystic fibrosis disease progression

Author

Muilwijk, D., primary, de Poel, E., additional, van Mourik, P., additional, Suen, S.W.F., additional, Vonk, A.M., additional, Brunsveld, J.E., additional, Kruisselbrink, E., additional, Oppelaar, H., additional, Hagemeijer, M.C., additional, Berkers, G., additional, de Winter-de Groot, K.M., additional, Heida-Michel, S., additional, Jans, S.R., additional, van Panhuis, H., additional, van der Eerden, M.M., additional, van der Meer, R., additional, Roukema, J., additional, Dompeling, E., additional, Weersink, E.J.M., additional, Koppelman, G.H., additional, Vries, R., additional, Zomer-van Ommen, D.D., additional, Eijkemans, M.J.C., additional, van der Ent, C.K., additional, and Beekman, J.M., additional

Published
2021
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34. Towards Prepared mums (TOP-mums) for a healthy start, a lifestyle intervention for women with overweight and a child wish: Study protocol for a randomised controlled trial in the Netherlands

Author

Timmermans, Y.E.G. (Yvon E G), Kant, K.D.G. (Kim D.) van de, Reijnders, D. (Dorien), Kleijkers, L.M.P. (Lina M P), Dompeling, E. (Edward), Kramer, B.W. (Boris), Zimmermann, L.J.I. (Luc), Steegers-Theunissen, R.P.M. (Régine P M), Spaanderman, M.E.A., Vreugdenhil, A.C.E., Timmermans, Y.E.G. (Yvon E G), Kant, K.D.G. (Kim D.) van de, Reijnders, D. (Dorien), Kleijkers, L.M.P. (Lina M P), Dompeling, E. (Edward), Kramer, B.W. (Boris), Zimmermann, L.J.I. (Luc), Steegers-Theunissen, R.P.M. (Régine P M), Spaanderman, M.E.A., and Vreugdenhil, A.C.E.

Abstract

Introduction Periconception obesity is associated with a higher risk for adverse perinatal outcomes such as gestational diabetes mellitus, preeclampsia, large for gestational age, operative delivery and preterm birth. Lifestyle interventions during pregnancy have resulted in insufficient effects on reducing these perinatal complications. A few reasons for this disappointing effect can be suggested: (1) the time period during pregnancy for improvement of developmental circumstances is too short; (2) the periconception period in which complications originate is not included; and (3) lifestyle interventions may not have been sufficiently multidisciplinary and customised. A preconception lifestyle intervention might be more effective to reduce perinatal complications. Therefore, the aim of the Towards Prepared mums study is to evaluate the effect of a lifestyle intervention starting prior to conception on lifestyle behaviour change. Methods and analysis This protocol outlines a non-blinded, randomised controlled trial. One hundred and twelve women (18-40 years of age) with overweight or obesity (body mass index≥25.0 kg/m 2) who plan to conceive within 1 year will be randomised to either the intervention or care as usual group. The intervention group will receive a multidisciplinary, customised lifestyle intervention stimulating physical activity, a healthy diet and smoking cessation, if applicable. The lifestyle intervention and monitoring will take place until 12 months postpartum. The primary outcome is difference in weight in kg from baseline to 6 weeks postpartum. Secondary outcomes are gestational weight gain, postpartum weight retention, smoking cessation, dietary and physical activity habits. Furthermore, exploratory outcomes include body composition, cardiometabolic alterations, time to pregnancy, need for assisted reproductive technologies, perinatal complications of mother and child, and lung function of the child. Vaginal and oral swabs, samples of faeces, br

Published
2019
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35. Towards Prepared mums (TOP-mums) for a healthy start, a lifestyle intervention for women with overweight and a child wish: Study protocol for a randomised controlled trial in the Netherlands

Author

Timmermans, YEG, de Kant, KDG, Reijnders, D, Kleijkers, LMP, Dompeling, E, Kramer, BW, Zimmermann, LJ, Steegers - Theunissen, Régine, Spaanderman, MEA, Vreugdenhil, ACE, Timmermans, YEG, de Kant, KDG, Reijnders, D, Kleijkers, LMP, Dompeling, E, Kramer, BW, Zimmermann, LJ, Steegers - Theunissen, Régine, Spaanderman, MEA, and Vreugdenhil, ACE

Published
2019

39. Performance of a four-step newborn screening strategy for CF in the Dutch screening program: WS 10.4

Author

Dankert-Roelse,J., Bouva, M., Winter-de Groot, Y. de, Schönbeck, Y., Gille, H., Gulmans, V.A.M., Verschoof-Puite, R., Dompeling, E., Schielen, P., and Verkerk, P.

Subjects
Life, Health, CH - Child Health, ELSS - Earth, Life and Social Sciences, Healthy for Life, Healthy Living
Abstract

Workshop. Since May 1, 2011, newborn screening for Cystic Fibrosis (NBSCF) is part of the Dutch NBS program Objectives: To assess the validity of the four-step screening strategy when applied in a routine newborn screening program. Methods: NBSCF was carried out as a 4-step strategy (Immunotrypsinogen (IRT)/Pancreatitis-associated Protein (PAP)/DNA-analysis for 35 CFTR mutations/extended gene analysis (EGA) (Thorax 2012;67: 289). As safety net EGA-analysis was performed in samples with IRT ≥ 100 μg/L but no CF mutations. In 2013 the strategy was adapted: besides newborns with two mutations, either disease-causing or of unknown clinical relevance, also newborns with one disease-causing mutation were referred to a designated CF centre for further diagnosis. Data analysis was carried out as if the screening strategy was adapted during the whole period of data collection (May 1, 2011 to January 1, 2016). CF centres reported results of sweat tests and CF patients not identified by NBSCF in the NBS-registry. Carriers and newborns with CFSPID were considered false positives. Before data-analysis a cross checkwas performed comparing data in the NBS- and the Dutch CF patient-registry. Results: 819,518 newborns, 99.95% of all newborns, were screened for CF; in 8,131 IRTwas ≥60 μg/L, in 1,079 DNA-analysis followed PAP analysis; 121 had 2 CF mutations; EGA analysis was performed in 85 samples with 1 CF mutation, in 474 as safety net. 193 were screen-positive. CF was confirmed in 122, we found 27 CFSPID, 37 carriers. CF was excluded in 7. A false negative screening test was reported for 16 (4 with meconium ileus (MI)), in 8 caused by PAP values < cut-off levels. We calculated a specificity of 99.99%, PPV 63%, CF/CFSPID ratio of 5/1 and a sensitivity of 91% (without MI). Conclusion: PAP as additional marker in NBSCF appears to lead to an excellent true/false positive rate and the finding of a low number of carriers. Lower PAP cut-off from 1–7-2016 can improve sensitivity to standards of care.

Published
2017

40. A european respiratory society technical standard: Exhaled biomarkers in lung disease

Author

Horváth, I. Barnes, P.J. Loukides, S. Sterk, P.J. Högman, M. Olin, A.-C. Amann, A. Antus, B. Baraldi, E. Bikov, A. Boots, A.W. Bos, L.D. Brinkman, P. Bucca, C. Carpagnano, G.E. Corradi, M. Cristescu, S. De Jongste, J.C. Dinh-Xuan, A.-T. Dompeling, E. Fens, N. Fowler, S. Hohlfeld, J.M. Holz, O. Jöbsis, Q. De Kant, K.V. Knobel, H.H. Kostikas, K. Lehtimäki, L. Lundberg, J.O. Montuschi, P. Van Muylem, A. Pennazza, G. Reinhold, P. Ricciardolo, F.L.M. Rosias, P. Santonico, M. van der Schee, M.P. van Schooten, F.-J. Spanevello, A. Tonia, T. Vink, T.J.

Subjects
respiratory tract diseases
Abstract

Breath tests cover the fraction of nitric oxide in expired gas (FENO), volatile organic compounds (VOCs), variables in exhaled breath condensate (EBC) and other measurements. For EBC and for FENO, official recommendations for standardised procedures are more than 10 years old and there is none for exhaled VOCs and particles. The aim of this document is to provide technical standards and recommendations for sample collection and analytic approaches and to highlight future research priorities in the field. For EBC and FENO, new developments and advances in technology have been evaluated in the current document. This report is not intended to provide clinical guidance on disease diagnosis and management. Clinicians and researchers with expertise in exhaled biomarkers were invited to participate. Published studies regarding methodology of breath tests were selected, discussed and evaluated in a consensus-based manner by the Task Force members. Recommendations for standardisation of sampling, analysing and reporting of data and suggestions for research to cover gaps in the evidence have been created and summarised. Application of breath biomarker measurement in a standardised manner will provide comparable results, thereby facilitating the potential use of these biomarkers in clinical practice. Copyright ©ERS 2017

Published
2017

42. A European Respiratory Society technical standard: exhaled biomarkers in lung disease

Author

Horvath, I, Barnes, Pj, Loukides, S, Sterk, Pj, Hogman, M, Olin, Ac, Amann, A, Antus, B, Baraldi, E, Bikov, A, Boots, Aw, Bos, Ld, Brinkman, P, Bucca, C, Carpagnano, Ge, Corradi, M, Cristescu, S, de Jongste, Jc, Dinh-Xuan, At, Dompeling, E, Fens, N, Fowler, S, Hohlfeld, Jm, Holz, O, Jobsis, Q, Van De Kant, Kv, Knobel, Hh, Kostikas, K, Lehtimaki, L, Lundberg, J, Montuschi, Paolo, Van Muylem, A, Pennazza, G, Reinhold, P, Ricciardolo, Flm, Rosias, P, Santonico, M, van der Schee, Mp, van Schooten, Fj, Spanevello, A, Tonia, T, Vink, Tj, Montuschi, P (ORCID:0000-0001-5589-1750), Horvath, I, Barnes, Pj, Loukides, S, Sterk, Pj, Hogman, M, Olin, Ac, Amann, A, Antus, B, Baraldi, E, Bikov, A, Boots, Aw, Bos, Ld, Brinkman, P, Bucca, C, Carpagnano, Ge, Corradi, M, Cristescu, S, de Jongste, Jc, Dinh-Xuan, At, Dompeling, E, Fens, N, Fowler, S, Hohlfeld, Jm, Holz, O, Jobsis, Q, Van De Kant, Kv, Knobel, Hh, Kostikas, K, Lehtimaki, L, Lundberg, J, Montuschi, Paolo, Van Muylem, A, Pennazza, G, Reinhold, P, Ricciardolo, Flm, Rosias, P, Santonico, M, van der Schee, Mp, van Schooten, Fj, Spanevello, A, Tonia, T, Vink, Tj, and Montuschi, P (ORCID:0000-0001-5589-1750)

Abstract

Breath tests cover the fraction of nitric oxide in expired gas (FeNO), volatile organic compounds (VOCs), variables in exhaled breath condensate (EBC) and other measurements. For EBC and for FeNO, official recommendations for standardised procedures are more than 10 years old and there is none for exhaled VOCs and particles. The aim of this document is to provide technical standards and recommendations for sample collection and analytic approaches and to highlight future research priorities in the field. For EBC and FeNO, new developments and advances in technology have been evaluated in the current document. This report is not intended to provide clinical guidance on disease diagnosis and management.Clinicians and researchers with expertise in exhaled biomarkers were invited to participate. Published studies regarding methodology of breath tests were selected, discussed and evaluated in a consensus-based manner by the Task Force members.Recommendations for standardisation of sampling, analysing and reporting of data and suggestions for research to cover gaps in the evidence have been created and summarised.Application of breath biomarker measurement in a standardised manner will provide comparable results, thereby facilitating the potential use of these biomarkers in clinical practice.

Published
2017

43. Dutch guidelines for the diagnosis and treatment of chronic lymphocytic leukaemial

Author

Kersting, S., Levin, M-D., Chamuleau, M., Daenen, S. M. G. J., Dompeling, E. C., Doorduijn, J. K., van Gelder, M., Hoogendoorn, M., Kerst, J. M., Nijland, M., Nijziel, M. R., Posthuma, E. F. M., Raymakers, R. A. P., Schaafsma, M. R., Silbermann, M. H., van der Straaten, H. M., Veelken, J. H., Vos, J. M. I., Wittebol, S., van Oers, M. H. J., Kater, A. P., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, Hematology, CCA - Clinical Therapy Development, and Molecular cell biology and Immunology

Subjects
Chronic lymphocytic leukaemia, guidelines, HOVON, CLL
Abstract

In recent years, considerable progress has been made in the treatment of patients with chronic lymphocytic leukaemia (CLL). Therefore, the CLL working group of the Dutch/Belgium Haemato-Oncology Foundation for Adults in the Netherlands (HOVON) framework revised the Dutch guidelines based on new studies and expert opinion of members of the working group.

Published
2016

44. Biomarkers in Exhaled Breath Condensate Are Not Predictive for Pulmonary Exacerbations in Children with Cystic Fibrosis : Results of a One-Year Observational Study

Author

van Horck, M, Alonso Abad, Ariel, Wesseling, G, de Winter, K, de Groot, K, van Aalderen, W, Hendriks, H, Winkens, B, Rijkers, G, Jobsis, Q, Dompeling, E, MUMC+: MA Arts Assistenten Kindergeneeskunde (9), Promovendi PHPC, Kindergeneeskunde, Pulmonologie, MUMC+: MA Med Staf Spec Longziekten (9), FHML Methodologie & Statistiek, RS: CAPHRI - R6 - Promoting Health & Personalised Care, MUMC+: MA Medische Staf Kindergeneeskunde (9), AII - Amsterdam institute for Infection and Immunity, and Paediatric Pulmonology

Subjects
Male, Pathology, Cystic Fibrosis, Physiology, lcsh:Medicine, Pathology and Laboratory Medicine, Biochemistry, Pediatrics, Cystic fibrosis, Gastroenterology, Pulmonary function testing, Families, Mathematical and Statistical Techniques, 0302 clinical medicine, Quality of life, Antibiotics, Medicine and Health Sciences, Exhaled breath condensate, 030212 general & internal medicine, Child, lcsh:Science, Non-U.S. Gov't, Immune Response, Children, Multidisciplinary, Antimicrobials, Research Support, Non-U.S. Gov't, Area under the curve, Drugs, Body Fluids, Breath Tests, Child, Preschool, Physical Sciences, Female, Anatomy, medicine.symptom, Statistics (Mathematics), Research Article, medicine.medical_specialty, Adolescent, Inflammatory Diseases, Immunology, Observational Study, Research and Analysis Methods, Research Support, Microbiology, 03 medical and health sciences, Signs and Symptoms, Diagnostic Medicine, Microbial Control, Internal medicine, medicine, Journal Article, Humans, Statistical Methods, Adverse effect, Inflammation, Pharmacology, Receiver operating characteristic, business.industry, lcsh:R, Sputum, Biology and Life Sciences, medicine.disease, respiratory tract diseases, Mucus, 030228 respiratory system, Age Groups, People and Places, Population Groupings, lcsh:Q, business, Biomarkers, Mathematics, Forecasting
Abstract

BACKGROUND: Cystic Fibrosis (CF) is characterized by chronically inflamed airways, and inflammation even increases during pulmonary exacerbations. These adverse events have an important influence on the well-being, quality of life, and lung function of patients with CF. Prediction of exacerbations by inflammatory markers in exhaled breath condensate (EBC) combined with early treatment may prevent these pulmonary exacerbations and may improve the prognosis. AIM: To investigate the diagnostic accuracy of a set of inflammatory markers in EBC to predict pulmonary exacerbations in children with CF. METHODS: In this one-year prospective observational study, 49 children with CF were included. During study visits with an interval of 2 months, a symptom questionnaire was completed, EBC was collected, and lung function measurements were performed. The acidity of EBC was measured directly after collection. Inflammatory markers interleukin (IL)-6, IL-8, tumor necrosis factor α (TNF-α), and macrophage migration inhibitory factor (MIF) were measured using high sensitivity bead based flow immunoassays. Pulmonary exacerbations were recorded during the study and were defined in two ways. The predictive power of inflammatory markers and the other covariates was assessed using conditionally specified models and a receiver operating characteristic curve (SAS version 9.2). In addition, k-nearest neighbors (KNN) algorithm was applied (SAS version 9.2). RESULTS: Sixty-five percent of the children had one or more exacerbations during the study. The conditionally specified models showed an overall correct prediction rate of 55%. The area under the curve (AUC) was equal to 0.62. The results obtained with the KNN algorithm were very similar. CONCLUSION: Although there is some evidence indicating that the predictors outperform random guessing, the general diagnostic accuracy of EBC acidity and the EBC inflammatory markers IL-6, IL-8, TNF-α and MIF is low. At present it is not possible to predict pulmonary exacerbations in children with CF with the chosen biomarkers and the method of EBC analysis. The biochemical measurements of EBC markers should be improved and other techniques should be considered. ispartof: PLoS One vol:11 issue:4 ispartof: location:United States status: published

Published
2016

45. Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Author

Vernooij-van Langen, A.M., Loeber, J.G., Elvers, B., Triepels, R.H., Gille, J.J.P., Ploeg, C.P. van der, Reijntjens, S., Dompeling, E., Dankert-Roelse, J.E., Yntema, J.L., Human genetics, CCA - Innovative therapy, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), and RS: CAPHRI School for Public Health and Primary Care

Subjects
Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pediatrics, Cystic Fibrosis, Pancreatitis-Associated Proteins, Context (language use), Sensitivity and Specificity, behavioral disciplines and activities, Cystic fibrosis, Genomic disorders and inherited multi-system disorders [IGMD 3], Neonatal Screening, Clinical Protocols, Antigens, Neoplasm, Predictive Value of Tests, CH - Child Health, Internal medicine, Biomarkers, Tumor, medicine, Humans, Lectins, C-Type, Immunoreactive trypsinogen, Prospective Studies, Prospective cohort study, Netherlands, Newborn screening, Routine screening, medicine.diagnostic_test, business.industry, Significant difference, Infant, Newborn, medicine.disease, BSS - Behavioural and Societal Sciences, Health, Predictive value of tests, Mutation, Trypsinogen, Female, Healthy for Life, business, Healthy Living, psychological phenomena and processes, Human
Abstract

Item does not contain fulltext CONTEXT: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive tests, equivocal diagnosis and detection of carriers. OBJECTIVE: To assess the test performance of two newborn screening strategies for CF. DESIGN, SETTING AND PARTICIPANTS: In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of The Netherlands. INTERVENTIONS: Two strategies were performed in all newborns. In the first strategy, concentrations of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) were measured. In the second method, samples with IRT >/=60 mug/litre were analysed for 36 CFTR mutations, followed by sequencing when a single mutation was detected. Tests were positive only with two identified CFTR mutations. MAIN OUTCOME: Sensitivity, specificity and positive predictive value (PPV) of both screening strategies. RESULTS: 145,499 infants were screened. The IRT/PAP approach showed a sensitivity of 95.0%, a specificity of 99.897% and a PPV of 12.3%. Test properties for the IRT/DNA/sequencing strategy were respectively 100%, 100% and 64.9%. Combining both strategies (IRT/PAP/DNA/sequencing) led to a sensitivity of 95.0%, a specificity of 100% and a PPV of 87.5%. CONCLUSION: In conclusion, all strategies performed well. Although there was no statistically significant difference in test performance, the IRT/DNA/sequencing strategy detected one infant that was missed by IRT/PAP (/DNA/sequencing). IRT/PAP may be the optimal choice if the use of DNA technology must be avoided. If identification of carriers and equivocal diagnosis is considered an important disadvantage, IRT/PAP/DNA/sequencing may be the best choice. 01 april 2012

Published
2012

50. Abstracts from the 3rd International Severe Asthma Forum (ISAF)

Author

Ketelaar, M. E., primary, Van De Kant, K., additional, Dijk, F. N., additional, Klaassen, E. M. M., additional, Grotenboer, N., additional, Nawijn, M. C., additional, Dompeling, E., additional, Koppelman, G. H., additional, Murray, Clare, additional, Foden, Philip, additional, Lowe, Lesley, additional, Durrington, Hannah, additional, Custovic, Adnan, additional, Simpson, Angela, additional, Simpson, Andrew J., additional, Shaw, Dominick E., additional, Sousa, Ana R., additional, Fleming, Louise J., additional, Roberts, Graham, additional, Pandis, Ioannis, additional, Bansal, Aruna T., additional, Corfield, Julie, additional, Wagers, Scott, additional, Djukanovic, Ratko, additional, Chung, Kian Fan, additional, Sterk, Peter J., additional, Vestbo, Jorgen, additional, Fowler, Stephen J., additional, Tebbutt, S. J., additional, Singh, A., additional, Shannon, C. P., additional, Kim, Y. W., additional, Yang, C. X., additional, Gauvreau, G. M., additional, Fitzgerald, J. M., additional, Boulet, L. P., additional, O’Byrne, P. M., additional, Begley, N., additional, Loudon, A., additional, Ray, D. W., additional, Baos, Selene, additional, Cremades, Lucía, additional, Calzada, David, additional, Lahoz, Carlos, additional, Cárdaba, Blanca, additional, Asosingh, Kewal, additional, Lauruschkat, Chris, additional, Queisser, Kimberly, additional, Wanner, Nicholas, additional, Weiss, Kelly, additional, Xu, Weiling, additional, Erzurum, Serpil, additional, Sokolowska, Milena, additional, Chen, Li-Yuan, additional, Liu, Yueqin, additional, Martinez-Anton, Asuncion, additional, Logun, Carolea, additional, Alsaaty, Sara, additional, Cuento, Rosemarie, additional, Cai, Rongman, additional, Sun, Junfeng, additional, Quehenberger, Oswald, additional, Armando, Aaron, additional, Dennis, Edward, additional, Levine, Stewart, additional, Shelhamer, James, additional, Choi, Kilyong, additional, Lazova, Snezhina, additional, Perenovska, Penka, additional, Miteva, Dimitrinka, additional, Priftis, Stamatios, additional, Petrova, Guergana, additional, Yablanski, Vassil, additional, Vlaev, Evgeni, additional, Rafailova, Hristina, additional, Kumae, Takashi, additional, Holmes, L. J., additional, Yorke, J., additional, Ryan, D. M., additional, Chinratanapisit, Sasawan, additional, Matchimmadamrong, Khlongtip, additional, Deerojanawong, Jitladda, additional, Karoonboonyanan, Wissaroot, additional, Sritipsukho, Paskorn, additional, Youroukova, Vania, additional, Dimitrova, Denitsa, additional, Slavova, Yanina, additional, Lesichkova, Spaska, additional, Tzocheva, Iren, additional, Parina, Snezhana, additional, Angelova, Svetla, additional, Korsun, Neli, additional, Craiu, Mihai, additional, Stan, Iustina Violeta, additional, Deliu, Matea, additional, Yavuz, Tolga, additional, Sperrin, Matthew, additional, Sahiner, Umit M., additional, Belgrave, Danielle, additional, Sackesen, Cansin Sackesen, additional, Kalayci, Ömer, additional, Velikov, Petar, additional, Velikova, Tsvetelina, additional, Ivanova-Todorova, Ekaterina, additional, Tumangelova-Yuzeir, Kalina, additional, Kyurkchiev, Dobroslav, additional, Megremis, Spyridon, additional, Constantinides, Bede, additional, Sotiropoulos, Alexandros Georgios, additional, Xepapadaki, Paraskevi, additional, Robertson, David, additional, Papadopoulos, Nikolaos, additional, Wilkinson, Maxim, additional, Portsmouth, Craig, additional, Ray, David, additional, Goodacre, Royston, additional, Valerieva, Anna, additional, Bobolea, Irina, additional, Vera, Daiana Guillén, additional, Gonzalez-Salazar, Gabriel, additional, Moreno, Carlos Melero, additional, Rodriguez, Consuelo Fernandez, additional, De Las Cuevas Moreno, Natividad, additional, Wang, R., additional, Satia, I., additional, Niven, R., additional, Smith, J. A., additional, Southworth, T., additional, Plumb, J., additional, Gupta, V., additional, Pearson, J., additional, Ramis, I., additional, Lehner, M. D., additional, Miralpeix, M., additional, Singh, D., additional, Satia, Imran, additional, Woodhead, Mark, additional, O’Byrne, Paul, additional, Smith, Jaclyn Ann, additional, Forss, Cecilia, additional, Cook, Peter, additional, Brown, Sheila, additional, Svedberg, Freya, additional, Stephenson, Katherine, additional, Bertuzzi, Margherita, additional, Bignell, Elaine, additional, Enerbäck, Malin, additional, Cunoosamy, Danen, additional, Macdonald, Andrew, additional, Liu, Caini, additional, Zhu, Liang, additional, Fukuda, Kiochi, additional, Zhang, Cunjin, additional, Ouyang, Suidong, additional, Chen, Xing, additional, Qin, Luke, additional, Rachakonda, Suguna, additional, Aronica, Mark, additional, Qin, Jun, additional, Li, Xiaoxia, additional, Larose, Marie-Chantal, additional, Archambault, Anne-Sophie, additional, Provost, Véronique, additional, Chakir, Jamila, additional, Laviolette, Michel, additional, Flamand, Nicolas, additional, Logan, Nicola, additional, Ruckerl, Dominik, additional, Allen, Judith E., additional, Sutherland, Tara E., additional, Hamelmann, E., additional, Vogelberg, C., additional, Goldstein, S., additional, Azzi, G. E., additional, Engel, M., additional, Sigmund, R., additional, Szefler, S. J., additional, Mesquita, Raquel, additional, Coentrão, Luis, additional, Veiga, Rui, additional, Paiva, José-Artur, additional, Roncon-Albuquerque, Roberto, additional, Porras, Wendy Vargas, additional, Moreno, Ana González, additional, Iglesias, Jesus Macías, additional, Ramos, Gustavo Córdova, additional, Acevedo, Yesenia Peña, additional, Alonso, Miguel Angel Tejedor, additional, Del Mar Moro Moro, Maria, additional, Krcmova, Irena, additional, Novosad, Jakub, additional, Hanania, Nicola Alexander, additional, Massanari, Marc, additional, Hecker, Heike, additional, Kassel, Eric, additional, Laforce, Craig, additional, Rickard, Kathy, additional, Snelder, Sanne, additional, Braunstahl, Gert-Jan, additional, Jones, T. L., additional, Neville, D., additional, Heiden, E. R., additional, Lanning, E., additional, Brown, T., additional, Rupani, H., additional, Babu, K. S., additional, Chauhan, A. J., additional, Eldegeir, M. Y., additional, Chapman, A. A., additional, Ferwana, M., additional, and Caldron, M., additional

Published
2017
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