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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

Frontiers in pediatrics

van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A.
PMID: 32656166
Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020.

No abstract available.

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van de Putte R, Dworschak GC, Brosens E, et al. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Front Pediatr. 2020;8:310doi: 10.3389/fped.2020.00310.
van de Putte, R., Dworschak, G. C., Brosens, E., Reutter, H. M., Marcelis, C. L. M., Acuna-Hidalgo, R., Kurtas, N. E., Steehouwer, M., Dunwoodie, S. L., Schmiedeke, E., Märzheuser, S., Schwarzer, N., Brooks, A. S., de Klein, A., Sloots, C. E. J., Tibboel, D., Brisighelli, G., Morandi, A., Bedeschi, M. F., Bates, M. D., Levitt, M. A., Peña, A., de Blaauw, I., Roeleveld, N., Brunner, H. G., van Rooij, I. A. L. M., & Hoischen, A. (2020). A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in pediatrics, 8310. https://doi.org/10.3389/fped.2020.00310
van de Putte, Romy, et al. "A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies." Frontiers in pediatrics vol. 8 (2020): 310. doi: https://doi.org/10.3389/fped.2020.00310
van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Front Pediatr. 2020 Jun 23;8:310. doi: 10.3389/fped.2020.00310. eCollection 2020. PMID: 32656166; PMCID: PMC7324789.
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Oxidative injury of the pulmonary circulation in the perinatal period: Short- and long-term consequences for the human cardiopulmonary system.

Pulmonary circulation

de Wijs-Meijler DP, Duncker DJ, Tibboel D, Schermuly RT, Weissmann N, Merkus D, Reiss IKM.
PMID: 28680565
Pulm Circ. 2017 Jan 01;7(1):55-66. doi: 10.1086/689748. eCollection 2017 Mar.

Development of the pulmonary circulation is a complex process with a spatial pattern that is tightly controlled. This process is vulnerable for disruption by various events in the prenatal and early postnatal periods. Disruption of normal pulmonary vascular development...

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de Wijs-Meijler DP, Duncker DJ, Tibboel D, et al. Oxidative injury of the pulmonary circulation in the perinatal period: Short- and long-term consequences for the human cardiopulmonary system. Pulm Circ. 2017;7(1):55-66doi: 10.1086/689748.
de Wijs-Meijler, D. P., Duncker, D. J., Tibboel, D., Schermuly, R. T., Weissmann, N., Merkus, D., & Reiss, I. K. M. (2017). Oxidative injury of the pulmonary circulation in the perinatal period: Short- and long-term consequences for the human cardiopulmonary system. Pulmonary circulation, 7(1), 55-66. https://doi.org/10.1086/689748
de Wijs-Meijler, Daphne P, et al. "Oxidative injury of the pulmonary circulation in the perinatal period: Short- and long-term consequences for the human cardiopulmonary system." Pulmonary circulation vol. 7,1 (2017): 55-66. doi: https://doi.org/10.1086/689748
de Wijs-Meijler DP, Duncker DJ, Tibboel D, Schermuly RT, Weissmann N, Merkus D, Reiss IKM. Oxidative injury of the pulmonary circulation in the perinatal period: Short- and long-term consequences for the human cardiopulmonary system. Pulm Circ. 2017 Jan 01;7(1):55-66. doi: 10.1086/689748. eCollection 2017 Mar. PMID: 28680565; PMCID: PMC5448552.
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Neurocardiovascular coupling in congenital diaphragmatic hernia patients undergoing different types of surgical treatment.

European journal of anaesthesiology

Hendrikx D, Costerus SA, Zahn K, Perez-Ortiz A, Caicedo Dorado A, Van Huffel S, de Graaff J, Wijnen R, Wessel L, Tibboel D, Naulaers G.
PMID: 34860716
Eur J Anaesthesiol. 2021 Dec 01; doi: 10.1097/EJA.0000000000001642. Epub 2021 Dec 01.

BACKGROUND: The effect of peri-operative management on the neonatal brain is largely unknown. Triggers for peri-operative brain injury might be revealed by studying changes in neonatal physiology peri-operatively.OBJECTIVE: To study neonatal pathophysiology and cerebral blood flow regulation peri-operatively using...

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Hendrikx D, Costerus SA, Zahn K, et al. Neurocardiovascular coupling in congenital diaphragmatic hernia patients undergoing different types of surgical treatment. Eur J Anaesthesiol. 2021;doi: 10.1097/EJA.0000000000001642.
Hendrikx, D., Costerus, S. A., Zahn, K., Perez-Ortiz, A., Caicedo Dorado, A., Van Huffel, S., de Graaff, J., Wijnen, R., Wessel, L., Tibboel, D., & Naulaers, G. (2021). Neurocardiovascular coupling in congenital diaphragmatic hernia patients undergoing different types of surgical treatment. European journal of anaesthesiology, . https://doi.org/10.1097/EJA.0000000000001642
Hendrikx, Dries, et al. "Neurocardiovascular coupling in congenital diaphragmatic hernia patients undergoing different types of surgical treatment." European journal of anaesthesiology vol. (2021). doi: https://doi.org/10.1097/EJA.0000000000001642
Hendrikx D, Costerus SA, Zahn K, Perez-Ortiz A, Caicedo Dorado A, Van Huffel S, de Graaff J, Wijnen R, Wessel L, Tibboel D, Naulaers G. Neurocardiovascular coupling in congenital diaphragmatic hernia patients undergoing different types of surgical treatment. Eur J Anaesthesiol. 2021 Dec 01; doi: 10.1097/EJA.0000000000001642. Epub 2021 Dec 01. PMID: 34860716.
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Highly Variable Paracetamol Pharmacokinetics After Multiple Oral Dosing in Frail Older People: A Population Pharmacokinetic Analysis.

Drugs & aging

van der Heijden LT, Mian P, Hias J, de Winter BCM, Tournoy J, Van der Linden L, Tibboel D, Walgraeve K, Flamaing J, Koch BCP, Allegaert K, Spriet I.
PMID: 34918212
Drugs Aging. 2022 Jan;39(1):83-95. doi: 10.1007/s40266-021-00912-z. Epub 2021 Dec 17.

INTRODUCTION: Paracetamol pharmacokinetics (PK) is highly variable in older fit adults after intravenous administration. Frailty and oral administration likely result in additional variability. The aim was to determine oral paracetamol PK and variability in geriatric inpatients.METHODS: A population PK...

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van der Heijden LT, Mian P, Hias J, et al. Highly Variable Paracetamol Pharmacokinetics After Multiple Oral Dosing in Frail Older People: A Population Pharmacokinetic Analysis. Drugs Aging. 2021;39(1):83-95doi: 10.1007/s40266-021-00912-z.
van der Heijden, L. T., Mian, P., Hias, J., de Winter, B. C. M., Tournoy, J., Van der Linden, L., Tibboel, D., Walgraeve, K., Flamaing, J., Koch, B. C. P., Allegaert, K., & Spriet, I. (2022). Highly Variable Paracetamol Pharmacokinetics After Multiple Oral Dosing in Frail Older People: A Population Pharmacokinetic Analysis. Drugs & aging, 39(1), 83-95. https://doi.org/10.1007/s40266-021-00912-z
van der Heijden, L T, et al. "Highly Variable Paracetamol Pharmacokinetics After Multiple Oral Dosing in Frail Older People: A Population Pharmacokinetic Analysis." Drugs & aging vol. 39,1 (2022): 83-95. doi: https://doi.org/10.1007/s40266-021-00912-z
van der Heijden LT, Mian P, Hias J, de Winter BCM, Tournoy J, Van der Linden L, Tibboel D, Walgraeve K, Flamaing J, Koch BCP, Allegaert K, Spriet I. Highly Variable Paracetamol Pharmacokinetics After Multiple Oral Dosing in Frail Older People: A Population Pharmacokinetic Analysis. Drugs Aging. 2022 Jan;39(1):83-95. doi: 10.1007/s40266-021-00912-z. Epub 2021 Dec 17. PMID: 34918212.
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Impact of haemolysis on vancomycin disposition in a full-term neonate treated with extracorporeal membrane oxygenation.

Perfusion

Pokorná P, Šíma M, Tibboel D, Slanař O.
PMID: 33200670
Perfusion. 2021 Nov;36(8):864-867. doi: 10.1177/0267659120973595. Epub 2020 Nov 17.

INTRODUCTION: Extracorporeal membrane oxygenation (ECMO) is a lifesaving support technology for potentially reversible neonatal cardiac and/or respiratory failure. Pharmacological consequences of ECMO-induced haemolysis in neonates are not well understood.CASE REPORT: We report a case report of a full-term neonate...

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Pokorná P, Šíma M, Tibboel D, et al. Impact of haemolysis on vancomycin disposition in a full-term neonate treated with extracorporeal membrane oxygenation. Perfusion. 2020;36(8):864-867doi: 10.1177/0267659120973595.
Pokorná, P., Šíma, M., Tibboel, D., & Slanař, O. (2021). Impact of haemolysis on vancomycin disposition in a full-term neonate treated with extracorporeal membrane oxygenation. Perfusion, 36(8), 864-867. https://doi.org/10.1177/0267659120973595
Pokorná, Pavla, et al. "Impact of haemolysis on vancomycin disposition in a full-term neonate treated with extracorporeal membrane oxygenation." Perfusion vol. 36,8 (2021): 864-867. doi: https://doi.org/10.1177/0267659120973595
Pokorná P, Šíma M, Tibboel D, Slanař O. Impact of haemolysis on vancomycin disposition in a full-term neonate treated with extracorporeal membrane oxygenation. Perfusion. 2021 Nov;36(8):864-867. doi: 10.1177/0267659120973595. Epub 2020 Nov 17. PMID: 33200670.
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Innovative approaches and recent advances in the study of ontogeny of drug metabolism and transport.

British journal of clinical pharmacology

van Groen BD, Allegaert K, Tibboel D, de Wildt SN.
PMID: 32851677
Br J Clin Pharmacol. 2020 Aug 26; doi: 10.1111/bcp.14534. Epub 2020 Aug 26.

The disposition of a drug is driven by various processes, such as drug metabolism, drug transport, glomerular filtration and body composition. These processes are subject to developmental changes reflecting growth and maturation along the paediatric continuum. However, knowledge gaps...

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van Groen BD, Allegaert K, Tibboel D, et al. Innovative approaches and recent advances in the study of ontogeny of drug metabolism and transport. Br J Clin Pharmacol. 2020;doi: 10.1111/bcp.14534.
van Groen, B. D., Allegaert, K., Tibboel, D., & de Wildt, S. N. (2020). Innovative approaches and recent advances in the study of ontogeny of drug metabolism and transport. British journal of clinical pharmacology, . https://doi.org/10.1111/bcp.14534
van Groen, Bianca D, et al. "Innovative approaches and recent advances in the study of ontogeny of drug metabolism and transport." British journal of clinical pharmacology vol. (2020). doi: https://doi.org/10.1111/bcp.14534
van Groen BD, Allegaert K, Tibboel D, de Wildt SN. Innovative approaches and recent advances in the study of ontogeny of drug metabolism and transport. Br J Clin Pharmacol. 2020 Aug 26; doi: 10.1111/bcp.14534. Epub 2020 Aug 26. PMID: 32851677.
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Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.

Clinical epigenetics

Slot E, Boers R, Boers J, van IJcken WFJ, Tibboel D, Gribnau J, Rottier R, de Klein A.
PMID: 34325731
Clin Epigenetics. 2021 Jul 29;13(1):148. doi: 10.1186/s13148-021-01134-1.

BACKGROUND: Alveolar capillary dysplasia with or without misalignment of the pulmonary veins (ACD/MPV) is a lethal congenital lung disorder associated with a variety of heterozygous genomic alterations in the FOXF1 gene or its 60 kb enhancer. Cases without a...

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Slot E, Boers R, Boers J, et al. Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus. Clin Epigenetics. 2021;13(1):148doi: 10.1186/s13148-021-01134-1.
Slot, E., Boers, R., Boers, J., van IJcken, W. F. J., Tibboel, D., Gribnau, J., Rottier, R., & de Klein, A. (2021). Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus. Clinical epigenetics, 13(1), 148. https://doi.org/10.1186/s13148-021-01134-1
Slot, Evelien, et al. "Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus." Clinical epigenetics vol. 13,1 (2021): 148. doi: https://doi.org/10.1186/s13148-021-01134-1
Slot E, Boers R, Boers J, van IJcken WFJ, Tibboel D, Gribnau J, Rottier R, de Klein A. Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus. Clin Epigenetics. 2021 Jul 29;13(1):148. doi: 10.1186/s13148-021-01134-1. PMID: 34325731; PMCID: PMC8323302.
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Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.

Genes

Brosens E, Brouwer RWW, Douben H, van Bever Y, Brooks AS, Wijnen RMH, van IJcken WFJ, Tibboel D, Rottier RJ, de Klein A.
PMID: 34680991
Genes (Basel). 2021 Oct 10;12(10). doi: 10.3390/genes12101595.

Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-) genetic syndromes. Research using animal models targeting genes involved in candidate pathways...

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Brosens E, Brouwer RWW, Douben H, et al. Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology. Genes (Basel). 2021;12(10)doi: 10.3390/genes12101595.
Brosens, E., Brouwer, R. W. W., Douben, H., van Bever, Y., Brooks, A. S., Wijnen, R. M. H., van IJcken, W. F. J., Tibboel, D., Rottier, R. J., & de Klein, A. (2021). Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology. Genes, 12(10), . https://doi.org/10.3390/genes12101595
Brosens, Erwin, et al. "Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology." Genes vol. 12,10 (2021). doi: https://doi.org/10.3390/genes12101595
Brosens E, Brouwer RWW, Douben H, van Bever Y, Brooks AS, Wijnen RMH, van IJcken WFJ, Tibboel D, Rottier RJ, de Klein A. Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology. Genes (Basel). 2021 Oct 10;12(10). doi: 10.3390/genes12101595. PMID: 34680991; PMCID: PMC8535313.
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Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Pulmonary circulation

Slot E, Edel G, Cutz E, van Heijst A, Post M, Schnater M, Wijnen R, Tibboel D, Rottier R, de Klein A.
PMID: 30058937
Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of...

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Slot E, Edel G, Cutz E, et al. Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. Pulm Circ. 2018;8(3):2045894018795143doi: 10.1177/2045894018795143.
Slot, E., Edel, G., Cutz, E., van Heijst, A., Post, M., Schnater, M., Wijnen, R., Tibboel, D., Rottier, R., & de Klein, A. (2018). Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. Pulmonary circulation, 8(3), 2045894018795143. https://doi.org/10.1177/2045894018795143
Slot, Evelien, et al. "Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects." Pulmonary circulation vol. 8,3 (2018): 2045894018795143. doi: https://doi.org/10.1177/2045894018795143
Slot E, Edel G, Cutz E, van Heijst A, Post M, Schnater M, Wijnen R, Tibboel D, Rottier R, de Klein A. Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30. PMID: 30058937; PMCID: PMC6108021.
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Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients.

Pulmonary circulation

Huang Y, Boerema-de Munck A, Buscop-van Kempen M, Sluiter I, de Krijger R, Tibboel D, Rottier RJ.
PMID: 29855254
Pulm Circ. 2018 Jul-Sep;8(3):2045894018783734. doi: 10.1177/2045894018783734. Epub 2018 Jun 01.

We show that hypoxia inducible factor 2α (HIF2α) is highly expressed in patients with pulmonary hypertension (PH). HIF2α is expressed in every patient with congenital diaphragmatic hernia, while only half of the controls express HIF2α. Our data suggest that...

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Huang Y, Boerema-de Munck A, Buscop-van Kempen M, et al. Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients. Pulm Circ. 2018;8(3):2045894018783734doi: 10.1177/2045894018783734.
Huang, Y., Boerema-de Munck, A., Buscop-van Kempen, M., Sluiter, I., de Krijger, R., Tibboel, D., & Rottier, R. J. (2018). Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients. Pulmonary circulation, 8(3), 2045894018783734. https://doi.org/10.1177/2045894018783734
Huang, Yadi, et al. "Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients." Pulmonary circulation vol. 8,3 (2018): 2045894018783734. doi: https://doi.org/10.1177/2045894018783734
Huang Y, Boerema-de Munck A, Buscop-van Kempen M, Sluiter I, de Krijger R, Tibboel D, Rottier RJ. Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients. Pulm Circ. 2018 Jul-Sep;8(3):2045894018783734. doi: 10.1177/2045894018783734. Epub 2018 Jun 01. PMID: 29855254; PMCID: PMC6055252.
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The authors reply.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies

Snoek KG, Tibboel D.
PMID: 27705997
Pediatr Crit Care Med. 2016 Oct;17(10):1017-1018. doi: 10.1097/PCC.0000000000000931.

No abstract available.

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Snoek KG, Tibboel D. The authors reply. Pediatr Crit Care Med. 2016;17(10):1017-1018doi: 10.1097/PCC.0000000000000931.
Snoek, K. G., & Tibboel, D. (2016). The authors reply. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 17(10), 1017-1018. https://doi.org/10.1097/PCC.0000000000000931
Snoek, Kitty G, and Tibboel, Dick. "The authors reply." Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies vol. 17,10 (2016): 1017-1018. doi: https://doi.org/10.1097/PCC.0000000000000931
Snoek KG, Tibboel D. The authors reply. Pediatr Crit Care Med. 2016 Oct;17(10):1017-1018. doi: 10.1097/PCC.0000000000000931. PMID: 27705997.
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From pediatric covariate model to semiphysiological function for maturation: part I-extrapolation of a covariate model from morphine to Zidovudine.

CPT: pharmacometrics & systems pharmacology

Krekels EH, Neely M, Panoilia E, Tibboel D, Capparelli E, Danhof M, Mirochnick M, Knibbe CA.
PMID: 23887364
CPT Pharmacometrics Syst Pharmacol. 2012 Oct 03;1:e9. doi: 10.1038/psp.2012.11.

New approaches to expedite the development of safe and effective pediatric dosing regimens and first-in-child doses are urgently needed. Model-based approaches require quantitative functions on the maturation of different metabolic pathways. In this study, we directly incorporated a pediatric...

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Krekels EH, Neely M, Panoilia E, et al. From pediatric covariate model to semiphysiological function for maturation: part I-extrapolation of a covariate model from morphine to Zidovudine. CPT Pharmacometrics Syst Pharmacol. 2012;1:e9doi: 10.1038/psp.2012.11.
Krekels, E. H., Neely, M., Panoilia, E., Tibboel, D., Capparelli, E., Danhof, M., Mirochnick, M., & Knibbe, C. A. (2012). From pediatric covariate model to semiphysiological function for maturation: part I-extrapolation of a covariate model from morphine to Zidovudine. CPT: pharmacometrics & systems pharmacology, 1e9. https://doi.org/10.1038/psp.2012.11
Krekels, E H J, et al. "From pediatric covariate model to semiphysiological function for maturation: part I-extrapolation of a covariate model from morphine to Zidovudine." CPT: pharmacometrics & systems pharmacology vol. 1 (2012): e9. doi: https://doi.org/10.1038/psp.2012.11
Krekels EH, Neely M, Panoilia E, Tibboel D, Capparelli E, Danhof M, Mirochnick M, Knibbe CA. From pediatric covariate model to semiphysiological function for maturation: part I-extrapolation of a covariate model from morphine to Zidovudine. CPT Pharmacometrics Syst Pharmacol. 2012 Oct 03;1:e9. doi: 10.1038/psp.2012.11. PMID: 23887364; PMCID: PMC3603431.
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