47 results on '"Doef, Hubert P. J."'
Search Results
2. Incidence, management and outcomes in hepatic artery complications after paediatric liver transplantation: protocol of the retrospective, international, multicentre HEPATIC Registry
- Author
-
Li, Weihao, primary, van der Doef, Hubert P J, additional, Wildhaber, Barbara E, additional, Marra, Paolo, additional, Bravi, Michela, additional, Pinelli, Domenico, additional, Minetto, Julia, additional, Dip, Marcelo, additional, Sierre, Sergio, additional, de Santibañes, Martin, additional, Ardiles, Victoria, additional, Uno, Jimmy Walker, additional, Hardikar, Winita, additional, Bates, Sue, additional, Goh, Lynette, additional, Aldrian, Denise, additional, Seisenbacher, Jonathan, additional, Vogel, Georg F, additional, Neto, Joao Seda, additional, Antunes da Fonseca, Eduardo, additional, Magalhães Costa, Carolina, additional, Ferreira, Cristina T, additional, Nader, Luiza S, additional, Farina, Marco A, additional, Dajani, Khaled Z, additional, Parente, Alessandro, additional, Bigam, David L, additional, Liang, Ting-Bo, additional, Bai, Xueli, additional, Zhang, Wei, additional, Gonsorčíková, Lucie, additional, Froněk, Jiří, additional, Bohuš, Šimon, additional, Franchi-Abella, Stéphanie, additional, Gonzales, Emmanuel, additional, Guérin, Florent, additional, Junge, Norman, additional, Baumann, Ulrich, additional, Richter, Nicolas, additional, Hartleif, Steffen, additional, Sturm, Ekkehard, additional, Rajakannu, Muthukumarassamy, additional, Palaniappan, Kumar, additional, Rela, Mohamed, additional, Pawaria, Arti, additional, Rajakrishnan, Haritha, additional, Surendran, Sudhindran, additional, Kumar, Mukesh, additional, Agarwal, Shaleen, additional, Gupta, Subhash, additional, Asthana, Sonal, additional, Bandewar, Vaishnavi, additional, Raichurkar, Karthik, additional, Spada, Marco, additional, Monti, Lidia, additional, Alterio, Tommaso, additional, Yanagi, Yusuke, additional, Uchida, Hajime, additional, Komine, Ryuji, additional, Evans, Helen, additional, Carr-Boyd, Peter, additional, Duncan, David, additional, Stefanowicz, Marek, additional, Latka-Grot, Julita, additional, Kolesnik, Adam, additional, Broering, Dieter C, additional, Raptis, Dimitri A, additional, Ann H Marquez, Kris, additional, Mali, Vidyadhar, additional, Aw, Marion, additional, Beretta, Marisa, additional, Van der Schyff, Francisca, additional, Quintero-Bernabeu, Jesús, additional, Mercadal-Hally, Maria, additional, Larrarte K, Mauricio, additional, Andres, Ane M, additional, Hernandez-Oliveros, Francisco, additional, Frauca, Esteban, additional, Casswall, Thomas, additional, Jorns, Carl, additional, Delle, Martin, additional, Gupte, Girish, additional, Sharif, Khalid, additional, McGuirk, Simon, additional, Superina, Riccardo, additional, Caicedo, Juan Carlos, additional, Jaramillo, Catalina, additional, Bitterfeld, Leandra, additional, Kastenberg, Zachary, additional, Shah, Amit A, additional, Domenick, Bryanna, additional, Acord, Michael R, additional, Mazariegos, George V, additional, Soltys, Kyle, additional, DiNorcia, Joseph, additional, Antala, Swanti, additional, Florman, Sander S, additional, Buchholz, Bettina M, additional, Herden, Uta, additional, Fischer, Lutz, additional, Dierckx, Rudi A J O, additional, Hartog, Hermien, additional, and Bokkers, Reinoud P H, additional
- Published
- 2024
- Full Text
- View/download PDF
3. No need for fasting prior to doppler ultrasound of pediatric liver transplants: A self‐controlled study.
- Author
-
Verhagen, Martijn V., van der Doef, Hubert P. J., Kwee, Thomas C., and de Haas, Robbert J.
- Subjects
- *
DOPPLER ultrasonography , *LIVER transplantation , *HEPATIC veins , *HEPATIC artery , *INTRACLASS correlation - Abstract
Background: Children frequently undergo routine Doppler‐ultrasound (DUS) after liver transplantation (LT) for which they are fasted, but this may cause hunger and discomfort. Objective: To determine if DUS measurements, with focus on the portal vein (PV), are affected by prandial changes, and if this affects distress and feasibility of the DUS. Materials and Methods: Children were prospectively included to undergo a pre‐ and postprandial DUS on the same day at 6 months after LT. Pre‐ and anastomotic PV peak systolic velocity (PSV), and hepatic artery and hepatic vein DUS measurements were obtained. Pre‐ and postprandial measurements, and relative postprandial change of PV velocity ratio (VR) compared to PV anastomotic PSV, were compared using paired‐sample t‐tests and intraclass correlation coefficients (ICC). Obscuration by bowel gas, difficulty of DUS, and impact of fasting were assessed using 5‐point rating scales. Results: Twenty‐eight children (median age 3.5 years, IQR 1.6–10.8) were included; four were subsequently excluded because they were not fasted (N = 2) or withdrew consent for the second DUS (N = 2). Measurements between pre‐ and postprandial DUS, and relative postprandial change of VR compared to PV anastomotic PSV, were not significantly different (p >.05). Test consistency was good (ICC = 0.69, 95% CI = 0.29–0.67) for PV anastomotic PSV, and excellent (95% CI = 0.61–0.93) for PV VR. Obscuration by bowel gas or ease of DUS did not change after eating (p >.05). The majority (16/28, 57.2%) found fasting difficult, and several (13/28, 46.4%) got upset when fasted. Conclusion: Children with an LT do not need to be fasted for routine DUS, which may decrease the burden of the examination. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
4. Treatment strategies for hepatic artery complications after pediatric liver transplantation: A systematic review.
- Author
-
Weihao Li, Bokkers, Reinoud P. H., Dierckx, Rudi A. J. O., Verkade, Henkjan J., Sanders, Dewey H., de Kleine, Ruben, and van der Doef, Hubert P. J.
- Published
- 2024
- Full Text
- View/download PDF
5. No need for fasting prior to doppler ultrasound of pediatric liver transplants: A self‐controlled study
- Author
-
Verhagen, Martijn V., primary, van der Doef, Hubert P. J., additional, Kwee, Thomas C., additional, and de Haas, Robbert J., additional
- Published
- 2023
- Full Text
- View/download PDF
6. Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts
- Author
-
van Albada, Mirjam E., primary, Shah, Pratik, additional, Derks, Terry G. J., additional, Fuchs, Sabine, additional, Jans, Judith J. M., additional, McLin, Valérie, additional, and van der Doef, Hubert P. J., additional
- Published
- 2023
- Full Text
- View/download PDF
7. Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease
- Author
-
Verstegen, Monique M. A., Roos, Floris J. M., Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J. C., de Jonge, Hugo R., Ardisasmita, Arif I., van Huizen, Nick A., Roest, Henk P., de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A., Schene, Imre F., Luider, Theo M., van der Doef, Hubert P. J., Bodewes, Frank A. J. A., de Kleine, Ruben H. J., Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N. M., Cuppen, Edwin, and van der Laan, Luc J. W.
- Published
- 2020
- Full Text
- View/download PDF
8. Prime editing for functional repair in patient-derived disease models
- Author
-
Schene, Imre F., Joore, Indi P., Oka, Rurika, Mokry, Michal, van Vugt, Anke H. M., van Boxtel, Ruben, van der Doef, Hubert P. J., van der Laan, Luc J. W., Verstegen, Monique M. A., van Hasselt, Peter M., Nieuwenhuis, Edward E. S., and Fuchs, Sabine A.
- Published
- 2020
- Full Text
- View/download PDF
9. Serious complications after button battery ingestion in children
- Author
-
Krom, Hilde, Visser, Margot, Hulst, Jessie M., Wolters, Victorien M., Van den Neucker, Anita M., de Meij, Tim, van der Doef, Hubert P. J., Norbruis, Obbe F., Benninga, Marc A., Smit, Margot J. M., and Kindermann, Angelika
- Published
- 2018
- Full Text
- View/download PDF
10. Waitlist mortality of young patients with biliary atresia: Impact of allocation policy and living donor liver transplantation
- Author
-
Esmati, Hedayatullah, primary, van Rosmalen, Marieke, additional, van Rheenen, Patrick F., additional, de Boer, Marieke T., additional, van den Berg, Aad P., additional, van der Doef, Hubert P. J., additional, Rayar, Michel, additional, de Kleine, Ruben H.J., additional, Porte, Robert J., additional, de Meijer, Vincent E., additional, and Verkade, Henkjan J., additional
- Published
- 2023
- Full Text
- View/download PDF
11. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
- Author
-
Interne geneeskunde GD, dCSCA RMSC-1, CS_STEAM, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, Fuchs, Sabine A, Interne geneeskunde GD, dCSCA RMSC-1, CS_STEAM, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, and Fuchs, Sabine A
- Published
- 2022
12. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
- Author
-
Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, Fuchs, Sabine A, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, and Fuchs, Sabine A
- Abstract
Inborn errors of metabolism (IEMs) comprise a diverse group of individually rare monogenic disorders that affect metabolic pathways. Mutations lead to enzymatic deficiency or dysfunction, which results in intermediate metabolite accumulation or deficit leading to disease phenotypes. Currently, treatment options for many IEMs are insufficient. Rarity of individual IEMs hampers therapy development and phenotypic and genetic heterogeneity suggest beneficial effects of personalized approaches. Recently, cultures of patient-own liver-derived intrahepatic cholangiocyte organoids (ICOs) have been established. Since most metabolic genes are expressed in the liver, patient-derived ICOs represent exciting possibilities for in vitro modeling and personalized drug testing for IEMs. However, the exact application range of ICOs remains unclear. To address this, we examined which metabolic pathways can be studied with ICOs and what the potential and limitations of patient-derived ICOs are to model metabolic functions. We present functional assays in patient ICOs with defects in branched-chain amino acid metabolism (methylmalonic acidemia), copper metabolism (Wilson disease), and transporter defects (cystic fibrosis). We discuss the broad range of functional assays that can be applied to ICOs, but also address the limitations of these patient-specific cell models. In doing so, we aim to guide the selection of the appropriate cell model for studies of a specific disease or metabolic process.
- Published
- 2022
13. Utility of preoperative CT-based body metrics in relation to postoperative complications in pediatric liver transplant recipients
- Author
-
Verhagen, Martijn V, Levolger, Stef, Hulshoff, Jan Binne, Werner, Maureen J M, van der Doef, Hubert P J, Viddeleer, Alain R, de Kleine, Ruben H, and de Haas, Robbert J
- Abstract
BACKGROUND: Computed tomography (CT) derived body metrics such as skeletal muscle index (SMI), psoas muscle index (PMI), and subcutaneous fat index (ScFI) are measurable components of sarcopenia, frailty, and nutrition. While these body metrics are advocated in adults for predicting postoperative outcomes after liver transplantation (LT), little is known about the value in pediatric populations. This study assessed the relation between preoperative CT-based body metrics and postoperative short-term outcomes in pediatric LT recipients. METHODS: Patients aged 0-18 years who underwent a primary LT were retrospectively included (N=101, median age 0.5 years, range 0.2-17.1). SMI, PMI, and ScFI were derived from preoperative axial CT slices. Postoperative outcomes and complications within 90 days were correlated with the CT-based body metrics. To classify postoperative infections, the Clavien-Dindo (CD) classification was used. Subgroup analyses were performed for age groups (10 years old). An optimal threshold for test performance was defined using Youden's J-statistic and receiver operating characteristic curve as appropriate. RESULTS: ScFI was significantly (P=0.001) correlated with moderate to severe postoperative infections (CD grade 3-5) in children
- Published
- 2021
14. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
- Author
-
Lehmann, Vivian, primary, Schene, Imre F., additional, Ardisasmita, Arif I., additional, Liv, Nalan, additional, Veenendaal, Tineke, additional, Klumperman, Judith, additional, van der Doef, Hubert P. J., additional, Verkade, Henkjan J., additional, Verstegen, Monique M. A., additional, van der Laan, Luc J. W., additional, Jans, Judith J. M., additional, Verhoeven‐Duif, Nanda M., additional, van Hasselt, Peter M., additional, Nieuwenhuis, Edward E. S., additional, Spee, Bart, additional, and Fuchs, Sabine A., additional
- Published
- 2021
- Full Text
- View/download PDF
15. UPDATE ON WAITLIST MORTALITY OF YOUNG PATIENTS WITH BILIARY ATRESIA - RESULTS FROM THE EUROTRANSPLANT DATABASE
- Author
-
Esmati, Heda, Rosmalen, Marieke, Rheenen, Patrick F., Boer, Marieke T., Den Berg, Aad A. P., Doef, Hubert P. J., Kleine, Ruben, Porte, Robert J., Vincent E. de Meijer, Verkade, Henkjan, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Groningen Institute for Organ Transplantation (GIOT)
- Published
- 2021
16. Tacrolimus in Gastrointestinal Bleeding in a Young Boy With Hereditary Hemorrhagic Telangiectasia
- Author
-
Pruijsen, Jessica M., primary, Kroon, Steven, additional, Mager, Johannes J., additional, Bungener, Laura B., additional, and van der Doef, Hubert P. J., additional
- Published
- 2021
- Full Text
- View/download PDF
17. Utility of Preoperative Computed Tomography–Based Body Metrics in Relation to Postoperative Complications in Pediatric Liver Transplantation Recipients
- Author
-
Verhagen, Martijn V., primary, Levolger, Stef, additional, Hulshoff, Jan Binne, additional, Werner, Maureen J. M., additional, van der Doef, Hubert P. J., additional, Viddeleer, Alain R., additional, de Kleine, Ruben H., additional, and de Haas, Robbert J., additional
- Published
- 2021
- Full Text
- View/download PDF
18. Paraneoplastic pemphigus associated with post‐transplant lymphoproliferative disorder after small bowel transplantation
- Author
-
Fidder, Sander A. R., primary, Bolling, Marieke C., additional, Diercks, Gilles F. H., additional, Pas, Hendri H., additional, Hooimeijer, Louise H. L., additional, Bungener, Laura B., additional, Willemse, Brigitte W. M., additional, Scheenstra, Rene, additional, Stapelbroek, Janneke M., additional, and van der Doef, Hubert P. J., additional
- Published
- 2021
- Full Text
- View/download PDF
19. Intestinal Obstruction Syndromes in Cystic Fibrosis: Meconium Ileus, Distal Intestinal Obstruction Syndrome, and Constipation
- Author
-
van der Doef, Hubert P. J., Kokke, Freddy T. M., van der Ent, Cornelis K., and Houwen, Roderick H. J.
- Published
- 2011
- Full Text
- View/download PDF
20. Assessment of hepatic artery anatomy in pediatric liver transplant recipients: MR angiography versus CT angiography
- Author
-
Verhagen, Martijn V., primary, Dikkers, Riksta, additional, de Kleine, Ruben H., additional, Kwee, Thomas C., additional, van der Doef, Hubert P. J., additional, and de Haas, Robbert J., additional
- Published
- 2021
- Full Text
- View/download PDF
21. Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease
- Author
-
Interne geneeskunde GD, dCSCA RMSC-1, Sub SBR overig, Faculteit Diergeneeskunde, Dep Biologie, Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, van der Laan, Luc J W, Interne geneeskunde GD, dCSCA RMSC-1, Sub SBR overig, Faculteit Diergeneeskunde, Dep Biologie, Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, and van der Laan, Luc J W
- Published
- 2020
22. Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease
- Author
-
Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, van der Laan, Luc J W, Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, and van der Laan, Luc J W
- Abstract
The development, homeostasis, and repair of intrahepatic and extrahepatic bile ducts are thought to involve distinct mechanisms including proliferation and maturation of cholangiocyte and progenitor cells. This study aimed to characterize human extrahepatic cholangiocyte organoids (ECO) using canonical Wnt-stimulated culture medium previously developed for intrahepatic cholangiocyte organoids (ICO). Paired ECO and ICO were derived from common bile duct and liver tissue, respectively. Characterization showed both organoid types were highly similar, though some differences in size and gene expression were observed. Both ECO and ICO have cholangiocyte fate differentiation capacity. However, unlike ICO, ECO lack the potential for differentiation towards a hepatocyte-like fate. Importantly, ECO derived from a cystic fibrosis patient showed no CFTR channel activity but normal chloride channel and MDR1 transporter activity. In conclusion, this study shows that ECO and ICO have distinct lineage fate and that ECO provide a competent model to study extrahepatic bile duct diseases like cystic fibrosis.
- Published
- 2020
23. Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease
- Author
-
CMM Groep De Ridder, Cancer, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, CMM Sectie Molecular Cancer Research, Hubrecht Institute with UMC, CMM, CMM Groep Cuppen, Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, van der Laan, Luc J W, CMM Groep De Ridder, Cancer, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, CMM Sectie Molecular Cancer Research, Hubrecht Institute with UMC, CMM, CMM Groep Cuppen, Verstegen, Monique M A, Roos, Floris J M, Burka, Ksenia, Gehart, Helmuth, Jager, Myrthe, de Wolf, Maaike, Bijvelds, Marcel J C, de Jonge, Hugo R, Ardisasmita, Arif I, van Huizen, Nick A, Roest, Henk P, de Jonge, Jeroen, Koch, Michael, Pampaloni, Francesco, Fuchs, Sabine A, Schene, Imre F, Luider, Theo M, van der Doef, Hubert P J, Bodewes, Frank A J A, de Kleine, Ruben H J, Spee, Bart, Kremers, Gert-Jan, Clevers, Hans, IJzermans, Jan N M, Cuppen, Edwin, and van der Laan, Luc J W
- Published
- 2020
24. Prime editing for functional repair in patient-derived disease models
- Author
-
Laboranten CT Radiologie, Metabole ziekten onderzoek 2, Child Health, Utrecht Valorisatie Centrum, CMM Groep Cuppen, Metabole ziekten patientenzorg, Infection & Immunity, Onderzoek, MDL onderzoek 1, Regenerative Medicine and Stem Cells, Zorg en O&O, Schene, Imre F, Joore, Indi P, Oka, Rurika, Mokry, Michal, van Vugt, Anke H M, van Boxtel, Ruben, van der Doef, Hubert P J, van der Laan, Luc J W, Verstegen, Monique M A, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Laboranten CT Radiologie, Metabole ziekten onderzoek 2, Child Health, Utrecht Valorisatie Centrum, CMM Groep Cuppen, Metabole ziekten patientenzorg, Infection & Immunity, Onderzoek, MDL onderzoek 1, Regenerative Medicine and Stem Cells, Zorg en O&O, Schene, Imre F, Joore, Indi P, Oka, Rurika, Mokry, Michal, van Vugt, Anke H M, van Boxtel, Ruben, van der Doef, Hubert P J, van der Laan, Luc J W, Verstegen, Monique M A, van Hasselt, Peter M, Nieuwenhuis, Edward E S, and Fuchs, Sabine A
- Published
- 2020
25. The potential of dietary treatment in patients with glycogen storage disease type IV
- Author
-
Derks, Terry G. J., primary, Peeks, Fabian, additional, Boer, Foekje, additional, Fokkert‐Wilts, Marieke, additional, Doef, Hubert P. J., additional, Heuvel, Marius C., additional, Szymańska, Edyta, additional, Rokicki, Dariusz, additional, Ryan, Patrick T., additional, and Weinstein, David A., additional
- Published
- 2020
- Full Text
- View/download PDF
26. The potential of dietary treatment in patients with glycogen storage disease type IV.
- Author
-
Derks, Terry G. J., Peeks, Fabian, Boer, Foekje, Fokkert‐Wilts, Marieke, Doef, Hubert P. J., Heuvel, Marius C., Szymańska, Edyta, Rokicki, Dariusz, Ryan, Patrick T., and Weinstein, David A.
- Abstract
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess the outcomes of medical diets, which limit the accumulation of glycogen. Clinical, dietary, laboratory, and imaging data for 15 GSD IV patients from three centres are presented. Medical diets may have the potential to delay or prevent liver transplantation, improve growth and normalize serum aminotransferases. Individual care plans aim to avoid both hyperglycaemia, hypoglycaemia and/or hyperketosis, to minimize glycogen accumulation and catabolism, respectively. Multidisciplinary monitoring includes balancing between traditional markers of metabolic control (ie, growth, liver size, serum aminotransferases, glucose homeostasis, lactate, and ketones), liver function (ie, synthesis, bile flow and detoxification of protein), and symptoms and signs of portal hypertension. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
27. Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency
- Author
-
Onderzoek, dCSCA RMSC-1, Sub Biomolecular analysis, van Rijn, Jorik M, Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y, van der Doef, Hubert P J, van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H M, Ng, Marini, Kokke, Freddy T M, Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Ünlüsoy Aksu, Aysel, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C A, Lichtenbelt, Klaske D, Massink, Maarten P G, Duran, Karen J, Verheij, Joke B G M, Lugtenberg, Dorien, Nikkels, Peter G J, Brouwer, Henricus G F, Verkade, Henkjan J, Scheenstra, Rene, Spee, Bart, Nieuwenhuis, Edward E S, Coffer, Paul J, Janecke, Andreas R, van Haaften, Gijs, Houwen, Roderick H J H, Müller, Thomas, Middendorp, Sabine, Boztug, Kaan, Onderzoek, dCSCA RMSC-1, Sub Biomolecular analysis, van Rijn, Jorik M, Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y, van der Doef, Hubert P J, van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H M, Ng, Marini, Kokke, Freddy T M, Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Ünlüsoy Aksu, Aysel, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C A, Lichtenbelt, Klaske D, Massink, Maarten P G, Duran, Karen J, Verheij, Joke B G M, Lugtenberg, Dorien, Nikkels, Peter G J, Brouwer, Henricus G F, Verkade, Henkjan J, Scheenstra, Rene, Spee, Bart, Nieuwenhuis, Edward E S, Coffer, Paul J, Janecke, Andreas R, van Haaften, Gijs, Houwen, Roderick H J H, Müller, Thomas, Middendorp, Sabine, and Boztug, Kaan
- Published
- 2018
28. Ursodeoxycholic acid treatment is associated with improvement of liver stiffness in cystic fibrosis patients
- Author
-
van der Feen, Cathelijne, van der Doef, Hubert P J, van der Ent, Cornelis K, Houwen, Roderick H J, van der Feen, Cathelijne, van der Doef, Hubert P J, van der Ent, Cornelis K, and Houwen, Roderick H J
- Published
- 2016
29. Ursodeoxycholic acid treatment is associated with improvement of liver stiffness in cystic fibrosis patients
- Author
-
Child Health, MDL patientenzorg, Cluster C, van der Feen, Cathelijne, van der Doef, Hubert P J, van der Ent, Cornelis K, Houwen, Roderick H J, Child Health, MDL patientenzorg, Cluster C, van der Feen, Cathelijne, van der Doef, Hubert P J, van der Ent, Cornelis K, and Houwen, Roderick H J
- Published
- 2016
30. Wait‐list mortality of young patients with Biliary atresia: Competing risk analysis of a eurotransplant registry–based cohort.
- Author
-
van der Doef, Hubert P. J., van Rheenen, Patrick F., van Rosmalen, Marieke, Rogiers, Xavier, Verkade, Henkjan J., and for pediatric liver transplantation centers of Eurotransplant
- Published
- 2018
- Full Text
- View/download PDF
31. Reversal of secondary protein‐losing enteropathy after surgical revision of a jejunal Roux‐en‐Y loop in a patient after liver transplantation
- Author
-
Holvast, Albert, Kats‐Ugurlu, Gursah, Bodewes, Frank A. J. A., Kleine, Ruben H. J., Porte, Robert J., Brouwers, Adrienne H., and Doef, Hubert P. J.
- Abstract
Secondary protein‐losing enteropathy (PLE) is a rare complication following pediatric liver transplantation (LT), mostly related to venous outflow obstruction of the liver. Here, we discuss a thus far unknown cause of secondary PLEfollowing pediatric LT. A 7‐month‐old boy underwent LTwith biliary anastomosis using a Roux‐en‐Y jejunal loop. Eleven months later he developed PLE. Routine diagnostic workup was negative. No hepatic outflow obstruction was detected during catheterization. Although the hepatic venous pressure gradient was slightly increased (10 mm Hg), there were no clinical signs of portal hypertension. Albumin scintigraphy with specific early recordings suggested focal albumin intestinal entry in the jejunal Roux‐en‐Y loop. Local bacterial overgrowth or local lymphangiectasia, possibly due to (venous) congestion, was considered. Treatment with metronidazole did not improve albumin loss. Next, surgical revision of the jejunal Roux‐en‐Y loop was performed. The explanted loop contained a small abnormal area with a thin hyperemic mucosa, near the former anastomosis. Histopathological analysis showed changes both in the blood vessels and the lymphatic vessels with focal deeper chronic active inflammation resulting in congestion of vessels, hampering lymphatic outflow leading to lymphangiectasia and patchy distortion of lymphatic vessels. Following surgical revision, secondary PLEdisappeared, up to now, 1.5 year post revision. The authors detect focal protein loss and treat protein‐losing enteropathy in a pediatric transplant recipient via surgical revision of the Roux‐en‐Y loop.
- Published
- 2019
- Full Text
- View/download PDF
32. Increase of Serum γ-Glutamyltransferase Associated With Development of Cirrhotic Cystic Fibrosis Liver Disease.
- Author
-
Bodewes, Frank A. J. A., van der Doef, Hubert P. J., Houwen, Roderick H. J., and Verkade, Henkjan J.
- Published
- 2015
- Full Text
- View/download PDF
33. Hepatic artery stenosis after pediatric liver transplantation: The potential role of conservative management.
- Author
-
Li W, Kotsou T, Hartog H, Scheenstra R, de Meijer VE, Stenekes MW, Verhagen MV, Bokkers RPH, and van der Doef HPJ
- Abstract
Aim: This study aimed to investigate the outcomes and effectiveness of various treatment strategies in patients with hepatic artery stenosis (HAS) after pediatric liver transplantation (pLT)., Methods: This is a single center observational cohort study between January 1st, 2004 and August 1st, 2023, including pLT recipients aged <18 years. The primary outcome was graft and patient survival. The secondary outcomes included incidence of biliary complications, technical success of surgery or endovascular therapy (EVT), and changes in liver function. The cut-off for early and late HAS was 14 days after pLT., Results: Among a total of 327 pLT patients, 4 % (n = 13) developed HAS (n = 3 early; n = 10 late). Treatments included surgical revascularization for one early HAS, conservative management with anticoagulation for one early and four late HAS, and EVT for one early and six late HAS. Over a median follow-up of 28.2 months after the diagnosis of HAS, graft survival was 100 % and 83 % in early and late HAS groups, and patient survival reached 100 % in both groups. One graft loss occurred in the conservative group. Conversely, graft survival in the EVT group was 100 %., Conclusion: The long-term outcomes of HAS after pLT are excellent. Both EVT and conservative management exhibited high graft survival rates for late HAS, with EVT achieving high technical success., Competing Interests: Conflict of interest All authors declare no conflicts of interest or industry support of the article entitled: ‘Hepatic artery stenosis after pediatric liver transplantation: the potential role of conservative management’., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
34. Treatment strategies for hepatic artery complications after pediatric liver transplantation: A systematic review.
- Author
-
Li W, Bokkers RPH, Dierckx RAJO, Verkade HJ, Sanders DH, de Kleine R, and van der Doef HPJ
- Subjects
- Child, Humans, Liver Diseases, Retrospective Studies, Hepatic Artery, Liver Transplantation adverse effects, Thrombosis etiology
- Abstract
This study aimed to evaluate the effectiveness of different treatments for hepatic artery thrombosis (HAT) and hepatic artery stenosis (HAS) after pediatric liver transplantation. We systematically reviewed studies published since 2000 that investigated the management of HAT and/or HAS after pediatric liver transplantation. Studies with a minimum of 5 patients in one of the treatment methods were included. The primary outcomes were technical success rate and graft and patient survival. The secondary outcomes were hepatic artery patency, complications, and incidence of HAT and HAS. Of 3570 studies, we included 19 studies with 328 patients. The incidence was 6.2% for HAT and 4.1% for HAS. Patients with an early HAT treated with surgical revascularization had a median graft survival of 45.7% (interquartile range, 30.7%-60%) and a patient survival of 61.3% (interquartile range, 58.7%-66.9%) compared with the other treatments (conservative, endovascular revascularization, or retransplantation). As for HAS, endovascular and surgical revascularization groups had a patient survival of 85.7% and 100% (interquartile range, 85%-100%), respectively. Despite various treatment methods, HAT after pediatric liver transplantation remains a significant issue that has profound effects on the patient and graft survival. Current evidence is insufficient to determine the most effective treatment for preventing graft failure., (Copyright © 2023 American Association for the Study of Liver Diseases.)
- Published
- 2024
- Full Text
- View/download PDF
35. Prevalence, management and efficacy of treatment in portal vein obstruction after paediatric liver transplantation: protocol of the retrospective international multicentre PORTAL registry.
- Author
-
Alfares BA, van der Doef HPJ, Wildhaber BE, Casswall T, Nowak G, Delle M, Aldrian D, Berchtold V, Vogel GF, Kaliciński P, Markiewicz-Kijewska M, Kolesnik A, Bernabeu JQ, Hally MM, Larrarte K M, Marra P, Bravi M, Pinelli D, Kasahara M, Sakamoto S, Uchida H, Mali V, Aw M, Franchi-Abella S, Gonzales E, Guérin F, Cervio G, Minetto J, Sierre S, de Santibañes M, Ardiles V, Uno JW, Evans H, Duncan D, McCall J, Hartleif S, Sturm E, Patel J, Mtegha M, Prasad R, Ferreira CT, Nader LS, Farina M, Jaramillo C, Rodriguez-Davalos MI, Feola P, Shah AA, Wood PM, Acord MR, Fischer RT, Mullapudi B, Hendrickson RJ, Khanna R, Pamecha V, Mukund A, Sharif K, Gupte G, McGuirk S, Porta G, Spada M, Alterio T, Maggiore G, Hardikar W, Beretta M, Dierckx R, de Kleine RHJ, and Bokkers RPH
- Subjects
- Humans, Child, Portal Vein, Retrospective Studies, Prevalence, Registries, Observational Studies as Topic, Multicenter Studies as Topic, Liver Transplantation adverse effects, Liver Diseases, Vascular Diseases epidemiology, Vascular Diseases etiology, Vascular Diseases surgery
- Abstract
Introduction: Portal vein obstruction (PVO) consists of anastomotic stenosis and thrombosis, which occurs due to a progression of the former. The aim of this large-scale international study is to assess the prevalence, current management practices and efficacy of treatment in patients with PVO., Methods and Analysis: The Portal vein Obstruction Revascularisation Therapy After Liver transplantation registry will facilitate an international, retrospective, multicentre, observational study, with 25 centres around the world already actively involved. Paediatric patients (aged <18 years) with a diagnosed PVO between 1 January 2001 and 1 January 2021 after liver transplantation will be eligible for inclusion. The primary endpoints are the prevalence of PVO, primary and secondary patency after PVO intervention and current management practices. Secondary endpoints are patient and graft survival, severe complications of PVO and technical success of revascularisation techniques., Ethics and Dissemination: Medical Ethics Review Board of the University Medical Center Groningen has approved the study (METc 2021/072). The results of this study will be disseminated via peer-reviewed publications and scientific presentations at national and international conferences., Trial Registration Number: Netherlands Trial Register (NL9261)., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
- Full Text
- View/download PDF
36. Effectiveness and safety of catheter-directed thrombolysis in conjunction with percutaneous mechanical thrombectomy for acute iliofemoral deep vein thrombosis: A meta-analysis.
- Author
-
Li W, Zaid Al-Kaylani A, Zeebregts CJ, El Moumni M, de Vries JPM, van der Doef HPJ, and Bokkers RPH
- Subjects
- Humans, Treatment Outcome, Thrombectomy adverse effects, Thrombectomy methods, Thrombolytic Therapy adverse effects, Thrombolytic Therapy methods, Fibrinolytic Agents, Catheters adverse effects, Iliac Vein diagnostic imaging, Hemorrhage complications, Retrospective Studies, Venous Thrombosis diagnostic imaging, Venous Thrombosis therapy, Venous Thrombosis complications, Postthrombotic Syndrome diagnostic imaging, Postthrombotic Syndrome etiology, Postthrombotic Syndrome therapy, Mechanical Thrombolysis adverse effects
- Abstract
Background: Patients with severe acute low iliofemoral deep vein thrombosis (DVT), such as phlegmasia cerulea dolens, benefit from catheter-directed thrombolysis (CDT). This meta-analysis investigated the effectiveness and safety of adjuvant percutaneous mechanical thrombectomy (PMT) during CDT compared with CDT alone in the treatment of acute iliofemoral DVT., Methods: A meta-analysis was performed in accordance with the PRISMA guidelines. Medline, Embase, the Cochrane Library, China National Knowledge Internet, and Wanfang data were searched for studies on the management of acute iliofemoral DVT by means of CDT or CDT with adjuvant PMT. Randomized, controlled trials and nonrandomized studies were included. The primary outcomes were venous patency rate, major bleeding complications, and post-thrombotic syndrome occurrence within 2 years of the procedure. The secondary outcomes were thrombolytic time and volume, as well as the rates of thigh detumescence and iliac vein stenting., Results: The meta-analysis included 20 eligible studies with a total of 1686 patients. The rates of venous patency (mean difference, 10.11; 95% confidence interval [CI], 5.59-14.62) and thigh detumescence (mean difference, 3.64; 95% CI, 1.10-6.18) of the adjuvant PMT group were higher than those of the CDT alone group. Compared with CDT alone, the adjuvant PMT group experienced fewer incidences of major bleeding complications (odds ratio, 0.45; 95% CI, 0.26-0.77) and occurrences of post-thrombotic syndrome within 2 years of the procedure (odds ratio, 0.55; 95% CI, 0.33-0.92). Furthermore, the duration of thrombolytic therapy was shorter, and the total dose of administered thrombolytics was lower with adjuvant PMT., Conclusions: Adjuvant PMT during CDT is associated with improved clinical outcomes and a lower incidence of major bleeding complications. The studies investigated were, however, single-center cohort studies, and future randomized controlled trials are needed to substantiate these findings., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
- Full Text
- View/download PDF
37. Correction: Doppler Ultrasound of Vascular Complications After Pediatric Liver Transplantation: Incidence, Time of Detection, and Positive Predictive Value.
- Author
-
Verhagen MV, de Kleine RHJ, van der Doef HPJ, Kwee TC, and de Haas RJ
- Abstract
[This corrects the article DOI: 10.1055/a-1961-9100.]., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)
- Published
- 2023
- Full Text
- View/download PDF
38. Doppler Ultrasound of Vascular Complications After Pediatric Liver Transplantation: Incidence, Time of Detection, and Positive Predictive Value.
- Author
-
Verhagen MV, de Kleine RHJ, van der Doef HPJ, Kwee TC, and de Haas RJ
- Abstract
Purpose Doppler ultrasound (DUS) is widely used to detect vascular complications after pediatric liver transplantation (LT). This study aimed to assess the moment of first detection of vascular complications with DUS, and to determine the positive predictive value (PPV) of DUS. Materials and Methods Patients aged 0-18 years who underwent LT between 2015 and 2019 were retrospectively included. 92 LTs in 83 patients were included (median age: 3.9 years, interquartile range: 0.7-10.5). Patients underwent perioperative (intra-operative and immediately postoperative) and daily DUS surveillance during the first postoperative week, and at 1, 3, and 12 months. Vascular complications were categorized for the hepatic artery, portal vein, and hepatic veins. DUS findings were compared to surgical or radiological findings during the 1-year follow-up. Results 52 vascular complications were diagnosed by DUS in 35/92 LTs (38%). 15 out of 52 (28.8%) were diagnosed perioperatively, 29/52 (55.8%) were diagnosed on postoperative days 1-7, and 8/52 (15.4%) after day 7. The PPV for all vascular complications diagnosed with DUS was 92.3%. During the 1-year follow-up, 18/19 (94.7%) hepatic artery complications, 19/26 (73.1%) portal vein complications, and 7/7 (100%) hepatic vein complications were diagnosed perioperatively or during the first week. Conclusion The majority of vascular complications during the first year after pediatric LT were diagnosed by DUS perioperatively or during the first week, with a high PPV. Our findings provide important information regarding when to expect different types of vascular complications on DUS, which might improve DUS post-LT surveillance protocols., Competing Interests: Conflict of Interest The authors declare that they have no conflict of interest., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)
- Published
- 2022
- Full Text
- View/download PDF
39. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.
- Author
-
Lehmann V, Schene IF, Ardisasmita AI, Liv N, Veenendaal T, Klumperman J, van der Doef HPJ, Verkade HJ, Verstegen MMA, van der Laan LJW, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Nieuwenhuis EES, Spee B, and Fuchs SA
- Subjects
- Humans, Liver metabolism, Membrane Transport Proteins metabolism, Metabolic Networks and Pathways, Amino Acid Metabolism, Inborn Errors metabolism, Organoids metabolism
- Abstract
Inborn errors of metabolism (IEMs) comprise a diverse group of individually rare monogenic disorders that affect metabolic pathways. Mutations lead to enzymatic deficiency or dysfunction, which results in intermediate metabolite accumulation or deficit leading to disease phenotypes. Currently, treatment options for many IEMs are insufficient. Rarity of individual IEMs hampers therapy development and phenotypic and genetic heterogeneity suggest beneficial effects of personalized approaches. Recently, cultures of patient-own liver-derived intrahepatic cholangiocyte organoids (ICOs) have been established. Since most metabolic genes are expressed in the liver, patient-derived ICOs represent exciting possibilities for in vitro modeling and personalized drug testing for IEMs. However, the exact application range of ICOs remains unclear. To address this, we examined which metabolic pathways can be studied with ICOs and what the potential and limitations of patient-derived ICOs are to model metabolic functions. We present functional assays in patient ICOs with defects in branched-chain amino acid metabolism (methylmalonic acidemia), copper metabolism (Wilson disease), and transporter defects (cystic fibrosis). We discuss the broad range of functional assays that can be applied to ICOs, but also address the limitations of these patient-specific cell models. In doing so, we aim to guide the selection of the appropriate cell model for studies of a specific disease or metabolic process., (© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
- Published
- 2022
- Full Text
- View/download PDF
40. Portal vein obstruction after pediatric liver transplantation: A systematic review of current treatment strategies.
- Author
-
Alfares BA, Bokkers RPH, Verkade HJ, Dierckx RAJO, Gupte G, Franchi-Abella S, de Kleine RH, and van der Doef HPJ
- Subjects
- Angioplasty, Child, Humans, Portal Vein diagnostic imaging, Stents adverse effects, Vascular Patency, Liver Transplantation adverse effects
- Abstract
Introduction: Portal vein obstruction (PVO) is a significant vascular complication after liver transplantation (LT) in pediatric patients. Current treatment strategies include percutaneous transluminal angioplasty (PTA), with or without stent placement, mesorex bypass (MRB), splenorenal shunt, mesocaval shunt, endovascular recanalization (EVR), splenic artery embolization and splenectomy. However, specific characteristics of patients undergoing intervention and selection of individual treatment and its efficacy have remained unclear. This review systematically analyzed biochemical and clinical characteristics, selection of treatment, efficacy, and post-procedural complications., Methods: We systematically searched PubMed and Embase between January 1995 and March 2021 for studies on the management of PVO after LT. We analyzed the reports for biochemical and clinical characteristics at the timing of the intervention in different patients, selection of treatment, and reported efficacies., Results: We found 22 cohort studies with 362 patients who had the following characteristics: biliary atresia (83%), living-donor LT (85%), thrombocytopenia (73%), splenomegaly (40%), ascites (16%), or gastrointestinal bleeding (26%). The 3-year primary patency of PTA without stent placement was similar to that with stent placement (70%-80% and 43%-94%, respectively). MRB was used as an initial treatment with a 3-year patency of 75% to 100%. One study showed that 5-year primary patency of EVR was 80%. Secondary patency was 90% to 100% after 3 years in all studies with PTA alone, PTA/stent placement, and stent placement alone., Conclusion: This is the first review of all treatment protocols in PVO after pediatric LT. We showed that an important group of patients has severe symptoms of portal hypertension. Efficacy of all treatment modalities was high in the included studies which make them important modalities for these patients., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
41. Time-to-reach Target Calprotectin Level in Newly Diagnosed Patients With Inflammatory Bowel Disease.
- Author
-
Haisma SM, Verkade HJ, Scheenstra R, van der Doef HPJ, Bodewes FAJA, and van Rheenen PF
- Subjects
- Adolescent, Child, Colitis, Ulcerative diagnosis, Crohn Disease diagnosis, Feces chemistry, Female, Humans, Intestinal Mucosa, Male, Netherlands, Prospective Studies, Registries, Remission Induction, Treatment Outcome, Inflammatory Bowel Diseases diagnosis, Leukocyte L1 Antigen Complex metabolism
- Abstract
Objectives: Treatment targets in inflammatory bowel disease (IBD) move away from controlling symptoms towards complete recovery of the intestinal mucosa. Currently, the most frequently used noninvasive surrogate marker of mucosal healing is a faecal calprotectin concentration in the target range. This study tested if there was a relation between time-to-reach target calprotectin and first flare., Methods: We prospectively included new-onset IBD patients ages 17 and younger in a cloud-based registry (FastForwardCare) and followed them for at least 52 weeks. They were treated according to Dutch national guidelines that advocate a step-up approach. Time-to-reach target was defined as the first calprotectin measurement below 250 μg/g after the start of induction therapy. Time-to-first flare was the time from the first calprotectin measurement below 250 μg/g until reappearance of symptoms with calprotectin values above 250 μg/g., Results: We included 76 patients (luminal Crohn disease [CD] 43); ulcerative colitis [UC] 33). Median age at diagnosis was, respectively 14.5 and 14.1 years. Median time-to-reach target calprotectin was 37 weeks in CD and 11 weeks in UC patients (Log-rank test, P = 0.001). Once the calprotectin target was reached, time-to-first flare was significantly longer in CD than in UC patients (Log-rank test, P = 0.001). CD patients with time-to-reach target calprotectin ≤12 weeks after conventional induction therapy (ie, exclusive enteral nutrition or steroids) had a more favorable disease course in the first year than those with time-to-reach target calprotectin >12 weeks (Log-rank test, P = 0.057). In UC patients, time-to-reach target calprotectin ≤12 weeks is not associated with a favorable disease course in the first year., Conclusions: The findings of this prospective registry suggest that a quick response to conventional therapy predicts a favorable disease course in new-onset paediatric CD, but not in UC. The concept "time-to-reach target calprotectin level" rationalizes the indefinite term "response to treatment" and is well suited for studying treatment effectiveness in real-world practices.
- Published
- 2019
- Full Text
- View/download PDF
42. Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
- Author
-
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, and Boztug K
- Subjects
- Caco-2 Cells, Case-Control Studies, Caspase 3 metabolism, Caspase 7 metabolism, Child, Child, Preschool, Consanguinity, Dermis cytology, Diacylglycerol O-Acyltransferase deficiency, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Netherlands, Phorbols, Real-Time Polymerase Chain Reaction, Sequence Analysis, DNA, Turkey, Diacylglycerol O-Acyltransferase genetics, Duodenum metabolism, Fibroblasts metabolism, Hypoalbuminemia genetics, Lipid Metabolism Disorders genetics, Organoids metabolism, Protein-Losing Enteropathies genetics
- Abstract
Background & Aims: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids., Methods: We collected blood samples from 10 patients, from 6 unrelated pedigrees, who presented with early-onset severe diarrhea and/or vomiting, hypoalbuminemia, and/or (fatal) protein-losing enteropathy with intestinal failure; we performed next-generation sequencing analysis of DNA from 8 patients. Organoids were generated from duodenal biopsies from 3 patients and 3 healthy individuals (controls). Caco-2 cells and patient-derived dermal fibroblasts were transfected or transduced with vectors that express full-length or mutant forms of DGAT1 or full-length DGAT2. We performed CRISPR/Cas9-guided disruption of DGAT1 in control intestinal organoids. Cells and organoids were analyzed by immunoblot, immunofluorescence, flow cytometry, chromatography, quantitative real-time polymerase chain reaction, and for the activity of caspases 3 and 7., Results: In the 10 patients, we identified 5 bi-allelic loss-of-function mutations in DGAT1. In patient-derived fibroblasts and organoids, the mutations reduced expression of DGAT1 protein and altered triacylglycerol metabolism, resulting in decreased lipid droplet formation after oleic acid addition. Expression of full-length DGAT2 in patient-derived fibroblasts restored formation of lipid droplets. Organoids derived from patients with DGAT1 mutations were more susceptible to lipid-induced cell death than control organoids., Conclusions: We identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells. These findings indicate the importance of DGAT1 in fat metabolism and lipotoxicity in the intestinal epithelium. A fat-free diet might serve as the first line of therapy for patients with reduced DGAT1 expression. It is important to identify genetic variants associated with congenital diarrheal disorders for proper diagnosis and selection of treatment strategies., (Copyright © 2018 AGA Institute. Published by Elsevier Inc. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
43. Ursodeoxycholic acid treatment is associated with improvement of liver stiffness in cystic fibrosis patients.
- Author
-
van der Feen C, van der Doef HP, van der Ent CK, and Houwen RH
- Subjects
- Adolescent, Child, Cholagogues and Choleretics administration & dosage, Drug Monitoring methods, Elasticity Imaging Techniques methods, Female, Humans, Liver Function Tests methods, Male, Netherlands epidemiology, Treatment Outcome, Ultrasonography methods, Cystic Fibrosis complications, Cystic Fibrosis epidemiology, Liver diagnostic imaging, Liver drug effects, Liver pathology, Liver Cirrhosis diagnosis, Liver Cirrhosis drug therapy, Liver Cirrhosis etiology, Ursodeoxycholic Acid administration & dosage
- Abstract
Background: Ursodeoxycholic acid (UDCA) might prevent progression of cystic fibrosis liver disease, but objective parameters for its effect are lacking., Methods: We used liver stiffness measurements to evaluate the effect of Ursodeoxycholic acid., Results: Paired measurements of liver stiffness were done in 73 patients without UDCA and in 32 patients with UDCA. In the latter group, 6 patients had cirrhosis; in 15 patients, UDCA was started based on Colombo criteria, and in 11 patients for other reasons. In patients without UDCA, liver stiffness increased: 0.19 (-0.03 to 0.59)kPa/year. Liver stiffness also increased in patients with cirrhosis: 4.6 (0.67-12.4)kPa/year. In patients who had UDCA based on Colombo criteria, a decrease of liver stiffness was observed: 0.70 (-1.6 to 0.55)kPa/year (P=0.01). In patients on UDCA for other reasons, liver stiffness increased: 0.23 (-0.20 to 0.51)kPa/year., Conclusion: UDCA reduced liver stiffness in patients with well-defined, mild liver disease., (Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
- Published
- 2016
- Full Text
- View/download PDF
44. Solitary Rectal Ulcer Syndrome as a Sign of Unrecognized Hirschsprung Disease.
- Author
-
Meinds RJ, van der Doef HPJ, Bodewes FAJA, Timmer A, Trzpis M, and Broens PMA
- Subjects
- Adolescent, Colonoscopy methods, Humans, Hirschsprung Disease diagnosis, Rectum pathology, Ulcer etiology
- Published
- 2016
- Full Text
- View/download PDF
45. Comparison of height for age and height for bone age with and without adjustment for target height in pediatric patients with CF.
- Author
-
Woestenenk JW, Hoekstra T, Hesseling C, van der Doef HP, and van der Ent CK
- Subjects
- Adolescent, Age Factors, Child, Cross-Sectional Studies, Female, Growth Charts, Humans, Male, Adolescent Development physiology, Body Height physiology, Bone Development physiology, Child Development physiology, Cystic Fibrosis physiopathology
- Abstract
Background: Height is a strong prognostic factor in cystic fibrosis (CF) and is usually compared to reference values of healthy children by expressing height as a z-score height-for-age (HFA). However, HFA does not take into account a potential delay in bone age (BA) and the genetic potential of the child and could therefore result in misclassification of short stature., Methods: In 169 children with CF height, BA and target height (TH) were assessed. HFA, height for bone age (HBA), HFA adjusted for target height (HFA/TH) and HBA adjusted for target height (HFA/TH) were determined and children were categorized according to these four methods., Results: Mean z-scores of the four methods ranged from -0.1 ± 0.8 (HBA/TH) to -0.5 ± 1.0 (HFA). Prevalence of short stature (z-score <-2 SD) determined by HFA (8%, n=14) was higher than when HBA, HFA/TH (both 5%, n=8) and HBA/TH (1% n=1) were applied., Conclusion: The method used to classify height affects outcome on a group level and for individual patients. Target height and bone age are likely to have added value in the interpretation of height in patients with CF., (Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
- Published
- 2011
- Full Text
- View/download PDF
46. Gastric acid inhibition for fat malabsorption or gastroesophageal reflux disease in cystic fibrosis: longitudinal effect on bacterial colonization and pulmonary function.
- Author
-
van der Doef HP, Arets HG, Froeling SP, Westers P, and Houwen RH
- Subjects
- Adolescent, Child, Cohort Studies, Colony Count, Microbial, Cystic Fibrosis complications, Cystic Fibrosis drug therapy, Female, Follow-Up Studies, Forced Expiratory Volume drug effects, Forced Expiratory Volume physiology, Gastric Acid metabolism, Gastroesophageal Reflux complications, Gastroesophageal Reflux diagnosis, Humans, Infant, Infant, Newborn, Longitudinal Studies, Malabsorption Syndromes complications, Malabsorption Syndromes diagnosis, Male, Multivariate Analysis, Odds Ratio, Probability, Proportional Hazards Models, Pseudomonas aeruginosa drug effects, Retrospective Studies, Risk Assessment, Severity of Illness Index, Staphylococcus aureus drug effects, Treatment Outcome, Vital Capacity drug effects, Cystic Fibrosis microbiology, Gastroesophageal Reflux drug therapy, Malabsorption Syndromes drug therapy, Proton Pump Inhibitors therapeutic use, Pseudomonas aeruginosa isolation & purification, Staphylococcus aureus isolation & purification
- Abstract
Objectives: To investigate bacterial colonization and pulmonary function longitudinally in patients with cystic fibrosis (CF) receiving drugs for gastric acid (GA) inhibition for fat malabsorption or for gastroesophageal reflux disease (GERD)., Study Design: A retrospective cohort study of 218 pediatric patients with CF was performed. Multilevel modeling was used to perform longitudinal analysis of forced expiratory volume in 1 second (FEV(1)), forced vital capacity (FVC), maximum expiratory flow at 50% of FVC (MEF(50)), and maximal mid-expiratory flow between 25% and 75% of FVC (MMEF(25-75)). Cox regression was used to calculate Pseudomonas aeruginosa- and Staphylococcus aureus-free survival., Results: Patients with CF and GA inhibition had a significantly smaller yearly decline of MEF(50) and MMEF(25-75) compared with control subjects. Other pulmonary function parameters and P aeruginosa or S aureus acquisition or colonization were not different from that of control subjects. GERD was associated with a significantly reduced pulmonary function (FEV(1) and FVC) and an earlier acquisition of P aeruginosa and S aureus., Conclusions: GA inhibition did not affect pulmonary function or bacterial acquisition and therefore is not contraindicated in patients with CF. GA inhibition might improve pulmonary function with time, because the decline of MEF(50) and MMEF(25-75) was less pronounced. GERD was associated with a reduced pulmonary function and an earlier acquisition of P aeruginosa and S aureus. Therefore the diagnosis and treatment of GERD should be aggressively pursued in patients with CF.
- Published
- 2009
- Full Text
- View/download PDF
47. Pulmonary prognosis in cystic fibrosis patients with liver disease.
- Author
-
Slieker MG, van der Doef HP, Deckers-Kocken JM, van der Ent CK, and Houwen RH
- Subjects
- Case-Control Studies, Child, Humans, Liver Diseases physiopathology, Splenomegaly complications, Cystic Fibrosis complications, Cystic Fibrosis physiopathology, Forced Expiratory Volume physiology, Liver Diseases etiology, Vital Capacity physiology
- Published
- 2006
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.