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1. Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Author

Abbo, Olivier, Angotti, Rossella, Antunovic, Sanja Sindjic, Anzelewicz, Stefan, Arneitz, Christoph, Arnold, Marion, Assi, Zaki, Aydin, Emrah, Ballouhey, Quentin, Barila, Patricia, Basson, Sonia, Besendorfer, Manuel, Di Cesare, Antonio, Dariel, Anne, Dekeryte, Inga, Djordjevic, Ivona, Domenichelli, Vincenzo, Duranteau, Lise, Durakbasa, Cigdem, Ebert, Anne-Karoline, Ellerkamp, Verena, Leon, Francesco Fascetti, Fisch, Margit, Vazquez, Araceli García, Gielok, Christoph, Bahadir, Gulnur Gollu, Haecker, Frank-Martin, Holmdahl, Gundela, Irtan, Sabine, Jones, Ceri, Kakar, Mohit, Keshtgar, Ali, Kvist, Kolja, Laconi, Francesco, Laurance, Marie, Candel, Eduardo Lopez, Ludwiczek, Johanna, Ludwikowski, Barbara, Macchini, Francesco, Malota, Mark, Matthyssens, Lucas, Martin, Benjamin, Martinez, Leopoldo, Midrio, Paola, Miserez, Marc, Mosiello, Giovanni, Pascual, Francisco Murcia, Nunez, Bernardo, Olén, Roger, Öztorun, Can İhsan, Parlak, Ayse, Prato, Alessio Pini, Poupalou, Anna, Arias, Marcos Prada, Prat, Jordi, Gil, Carlos Pueyo, Avila Ramirez, Luis Felipe, Reingruber, Bertram, Riccipetitoni, Giovanna, Riechardt, Silke, Risteski, Toni, Rogula, Wojciech, Rolle, Udo, Romeo, Carmelo, Schäfer, Frank-Mattias, Scirè, Gabriella, Sfeir, Rony, Singer, Georg, Sloots, Pim, Stanton, Michael, Stenström, Pernilla, Stockinger, Maria, Surhan, M., Suominen, Janne, Syed, Julia, Talon, Isabelle, Tanriverdi, Halil Ibrahim, Uzunlu, Osman, Valfre, Laura, Witvliet, Marieke, Zambaiti, Elisa, Zanatta, Cinzia, Zani, Augusto, de Beaufort, Cunera M.C., Aminoff, Dalia, de Blaauw, Ivo, Crétolle, Célia, Dingemann, Jens, Durkin, Natalie, Feitz, Wout F.J., Fruithof, JoAnne, Grano, Caterina, Burgos, Carmen Mesas, Schwarzer, Nicole, Slater, Graham, Soyer, Tutku, Violani, Cristiano, Wijnen, Rene, de Coppi, Paolo, and Gorter, Ramon R.

Published
2023
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2. Uncovering risk factors for kidney injury in children with a solitary functioning kidney

Author

Beeren, M.C.G., Blokland-Loggers, H.E., Breukels, M., van den Broek, L.M., del Canho, R., Creemers, D., van Dael, C.M.L., van der Deure, H., Dings-Lammertink, A., Dorrepaal, C., Dorresteijn, E., Feitz, W.F.J., Gracchi, V., Groen in ‘t Woud, S., Harnisch, E., Jacobs, M.J., Jira, P.E., Keijzer-Veen, M.G., Kloosterman, F.J., Knots, E., Konijnenberg, A.Y., Koppejan-Stapel, M., van der Kuur, E.C., van Ledden-Klok, M.J., Leunissen, R.W.J., Lilien, M.R., Jansen, C. Meine, de Moor, R., Nijhuis, I.J.M., Pierik, L.J.W.M., Pijning, A., de Pont, S.M.H.B., Renkema, K.Y., Rijlaarsdam, R., Roeleveld, N., van Rooij, R.W.G., Schreuder, M.F., Semmekrot, B., Steffens, M.G., Tanja, A.L., Westland, R., van Wijk, J.A.E., Wijnands - van den Berg, E., van der Zanden, L.F.M., Zegers, B., Groen in ‘t Woud, Sander, Roeleveld, Nel, Westland, Rik, Renkema, Kirsten Y., Steffens, Martijn G., Gracchi, Valentina, Lilien, Marc R., van Wijk, Joanna A.E., Feitz, Wout F.J., Schreuder, Michiel F., and van der Zanden, Loes F.M.

Published
2023
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3. Rare and Complex Urology: Clinical Overview of ERN eUROGEN

Author

Waltregny, David, Van der Aa, Frank, Spinoit, Anne-Françoise, Rösch, Wolfgang H., Schmiedeke, Eberhard, Fisch, Margit, Märzheuser, Stefanie, Gosemann, Jan-Hendrik, Hubertus, Jochen, Rawashdeh, Yazan, Thorup, Jorgen, Heloury, Yves, Leva, Ernesto, Mancini, Mariangela, Bagolan, Pietro, Sacco, Emilio, Verkauskas, Gilvydas, Feitz, Wout, Sloots, Cornelius, Czauderna, Piotr, Mauricio, Maria, Holmdahl, Gundela, Abrahamsson, Kate, Thomas, Kay, Cardozo, Linda, Chapple, Christopher, Sangar, Vijay, Greenwell, Tamsin, Watkin, Nick, Bujons Tur, Anna, Lozano Ortega, Jose, Pérez-Valderrama, Maria Begoña, Gutierrez Baños, Jose, Garcia Aparicio, Luis, Lopez, Manuel, Romero Otero, Javier, Lopez Pereira, Pedro, Herranz Amo, Felipe, Oswald, Josef, Abols, Valts, Frobe, Ana, Judit Molnar, Maria, Goergen, Martine, Dalmas, Miriam, Lovrecic, Luca, Oomen, Loes, Leijte, Erik, Shilhan, Darren E., Battye, Michelle, and Feitz, Wout F.J.

Published
2022
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5. CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

Author

van der Zanden, Loes F.M., van Rooij, Iris A.L.M., Quaedackers, Josine S.L.T., Nijman, Rien J.M., Steffens, Martijn, de Wall, Liesbeth L.L., Bongers, Ernie M.H.F., Schaefer, Franz, Kirchner, Marietta, Behnisch, Rouven, Bayazit, Aysun K., Caliskan, Salim, Obrycki, Lukasz, Montini, Giovanni, Duzova, Ali, Wuttke, Matthias, Jennings, Rachel, Hanley, Neil A., Milmoe, Natalie J., Winyard, Paul J.D., Renkema, Kirsten Y., Schreuder, Michiel F., Roeleveld, Nel, and Feitz, Wout F.J.

Published
2021
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9. Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Author

de Beaufort, Cunera M.C., primary, Aminoff, Dalia, additional, de Blaauw, Ivo, additional, Crétolle, Célia, additional, Dingemann, Jens, additional, Durkin, Natalie, additional, Feitz, Wout F.J., additional, Fruithof, JoAnne, additional, Grano, Caterina, additional, Burgos, Carmen Mesas, additional, Schwarzer, Nicole, additional, Slater, Graham, additional, Soyer, Tutku, additional, Violani, Cristiano, additional, Wijnen, Rene, additional, de Coppi, Paolo, additional, Gorter, Ramon R., additional, Abbo, Olivier, additional, Angotti, Rossella, additional, Antunovic, Sanja Sindjic, additional, Anzelewicz, Stefan, additional, Arneitz, Christoph, additional, Arnold, Marion, additional, Assi, Zaki, additional, Aydin, Emrah, additional, Ballouhey, Quentin, additional, Barila, Patricia, additional, Basson, Sonia, additional, Besendorfer, Manuel, additional, Di Cesare, Antonio, additional, Dariel, Anne, additional, Dekeryte, Inga, additional, Djordjevic, Ivona, additional, Domenichelli, Vincenzo, additional, Duranteau, Lise, additional, Durakbasa, Cigdem, additional, Ebert, Anne-Karoline, additional, Ellerkamp, Verena, additional, Leon, Francesco Fascetti, additional, Fisch, Margit, additional, Vazquez, Araceli García, additional, Gielok, Christoph, additional, Bahadir, Gulnur Gollu, additional, Haecker, Frank-Martin, additional, Holmdahl, Gundela, additional, Irtan, Sabine, additional, Jones, Ceri, additional, Kakar, Mohit, additional, Keshtgar, Ali, additional, Kvist, Kolja, additional, Laconi, Francesco, additional, Laurance, Marie, additional, Candel, Eduardo Lopez, additional, Ludwiczek, Johanna, additional, Ludwikowski, Barbara, additional, Macchini, Francesco, additional, Malota, Mark, additional, Matthyssens, Lucas, additional, Martin, Benjamin, additional, Martinez, Leopoldo, additional, Midrio, Paola, additional, Miserez, Marc, additional, Mosiello, Giovanni, additional, Pascual, Francisco Murcia, additional, Nunez, Bernardo, additional, Olén, Roger, additional, Öztorun, Can İhsan, additional, Parlak, Ayse, additional, Prato, Alessio Pini, additional, Poupalou, Anna, additional, Arias, Marcos Prada, additional, Prat, Jordi, additional, Gil, Carlos Pueyo, additional, Avila Ramirez, Luis Felipe, additional, Reingruber, Bertram, additional, Riccipetitoni, Giovanna, additional, Riechardt, Silke, additional, Risteski, Toni, additional, Rogula, Wojciech, additional, Rolle, Udo, additional, Romeo, Carmelo, additional, Schäfer, Frank-Mattias, additional, Scirè, Gabriella, additional, Sfeir, Rony, additional, Singer, Georg, additional, Sloots, Pim, additional, Stanton, Michael, additional, Stenström, Pernilla, additional, Stockinger, Maria, additional, Surhan, M., additional, Suominen, Janne, additional, Syed, Julia, additional, Talon, Isabelle, additional, Tanriverdi, Halil Ibrahim, additional, Uzunlu, Osman, additional, Valfre, Laura, additional, Witvliet, Marieke, additional, Zambaiti, Elisa, additional, Zanatta, Cinzia, additional, and Zani, Augusto, additional

Published
2023
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11. Transitional Care for Patients with Congenital Colorectal Diseases:An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Author

de Beaufort, Cunera M.C., Aminoff, Dalia, de Blaauw, Ivo, Crétolle, Célia, Dingemann, Jens, Durkin, Natalie, Feitz, Wout F.J., Fruithof, Jo Anne, Grano, Caterina, Burgos, Carmen Mesas, Schwarzer, Nicole, Slater, Graham, Soyer, Tutku, Violani, Cristiano, Wijnen, Rene, de Coppi, Paolo, Gorter, Ramon R., de Beaufort, Cunera M.C., Aminoff, Dalia, de Blaauw, Ivo, Crétolle, Célia, Dingemann, Jens, Durkin, Natalie, Feitz, Wout F.J., Fruithof, Jo Anne, Grano, Caterina, Burgos, Carmen Mesas, Schwarzer, Nicole, Slater, Graham, Soyer, Tutku, Violani, Cristiano, Wijnen, Rene, de Coppi, Paolo, and Gorter, Ramon R.

Abstract

Background: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD. Methods: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs. Recruitment of centres was done by the ERNs and EUPSA, using mailing lists and social media accounts. Only descriptive statistics were reported. Results:In total, 82 centres from 21 different countries entered the survey. Approximately half of them were ERN network members. Seventy-two centres (87.8%) had a self-reported area of expertise for both ARM and HD. Specific TOC programs were installed in 44% of the centres and AC programs in 31% of these centres. When comparing centres, wide variation was observed in the content of the programs. Conclusion: Despite the awareness of the importance of TOC and AC programs, these programs were installed in less than 50% of the participating centres. Various transition and AC programs were applied, with considerable heterogeneity in implementation, content and responsible caregivers involved. Sharing best practice examples and taking into account local and National Health Care Programs might lead to a better continuation of care in the future. Level of Evidence: III.

Published
2023

13. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Author

Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., and Renkema, Kirsten Y.

Published
2016
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15. Uncovering risk factors for kidney injury in children with a solitary functioning kidney

Author

Groen in ‘t Woud, Sander, primary, Roeleveld, Nel, additional, Westland, Rik, additional, Renkema, Kirsten Y., additional, Steffens, Martijn G., additional, Gracchi, Valentina, additional, Lilien, Marc R., additional, van Wijk, Joanna A.E., additional, Feitz, Wout F.J., additional, Schreuder, Michiel F., additional, van der Zanden, Loes F.M., additional, Beeren, M.C.G., additional, Blokland-Loggers, H.E., additional, Breukels, M., additional, van den Broek, L.M., additional, del Canho, R., additional, Creemers, D., additional, van Dael, C.M.L., additional, van der Deure, H., additional, Dings-Lammertink, A., additional, Dorrepaal, C., additional, Dorresteijn, E., additional, Feitz, W.F.J., additional, Gracchi, V., additional, Groen in ‘t Woud, S., additional, Harnisch, E., additional, Jacobs, M.J., additional, Jira, P.E., additional, Keijzer-Veen, M.G., additional, Kloosterman, F.J., additional, Knots, E., additional, Konijnenberg, A.Y., additional, Koppejan-Stapel, M., additional, van der Kuur, E.C., additional, van Ledden-Klok, M.J., additional, Leunissen, R.W.J., additional, Lilien, M.R., additional, Jansen, C. Meine, additional, de Moor, R., additional, Nijhuis, I.J.M., additional, Pierik, L.J.W.M., additional, Pijning, A., additional, de Pont, S.M.H.B., additional, Renkema, K.Y., additional, Rijlaarsdam, R., additional, Roeleveld, N., additional, van Rooij, R.W.G., additional, Schreuder, M.F., additional, Semmekrot, B., additional, Steffens, M.G., additional, Tanja, A.L., additional, Westland, R., additional, van Wijk, J.A.E., additional, Wijnands - van den Berg, E., additional, van der Zanden, L.F.M., additional, and Zegers, B., additional

Published
2023
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17. Rare and Complex Urology: Clinical Overview of ERN eUROGEN

Author

Oomen, Loes, Leijte, Erik, Shilhan, Darren E., Battye, Michelle, Feitz, Wout F.J., Waltregny, David, Van der Aa, Frank, Spinoit, Anne-Françoise, Rösch, Wolfgang H., Schmiedeke, Eberhard, Fisch, Margit, Märzheuser, Stefanie, Gosemann, Jan-Hendrik, Hubertus, Jochen, Rawashdeh, Yazan, Thorup, Jorgen, Heloury, Yves, Leva, Ernesto, Mancini, Mariangela, Bagolan, Pietro, Sacco, Emilio, Verkauskas, Gilvydas, Feitz, Wout, Sloots, Cornelius, Czauderna, Piotr, Mauricio, Maria, Holmdahl, Gundela, Abrahamsson, Kate, Thomas, Kay, Cardozo, Linda, Chapple, Christopher, Sangar, Vijay, Greenwell, Tamsin, Watkin, Nick, Bujons Tur, Anna, Lozano Ortega, Jose, Pérez-Valderrama, Maria Begoña, Gutierrez Baños, Jose, Garcia Aparicio, Luis, Lopez, Manuel, Romero Otero, Javier, Lopez Pereira, Pedro, Herranz Amo, Felipe, Oswald, Josef, Abols, Valts, Frobe, Ana, Judit Molnar, Maria, Goergen, Martine, Dalmas, Miriam, Lovrecic, Luca, and ERN eUROGEN, [missing]

Subjects
eUROGEN, European level, Health Personnel, Urology, education, 030232 urology & nephrology, European Reference Network, Disease, HYPOSPADIAS, Collaboration, Complex conditions, Rare, Rare diseases, 03 medical and health sciences, 0302 clinical medicine, Medicine and Health Sciences, medicine, Humans, EPIDEMIOLOGY, In patient, Patient summary, Retrospective Studies, Data collection, Settore MED/24 - UROLOGIA, business.industry, Retrospective cohort study, medicine.disease, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Data extraction, 030220 oncology & carcinogenesis, Medical emergency, Diagnosis code, business
Abstract

Background: In 2017, the European Commission launched 24 European Reference Networks (ERNs). ERN eUROGEN is the network for urorectogenital diseases and complex conditions, and started with 29 full member healthcare providers (HCPs) in 11 countries. It then covered 19 different disease areas distributed over three work -streams (WSs). Objective: To provide an overview and identify challenges in data collection at European level of the ERN eUROGEN patient population treated by HCPs in the network. Design, setting, and participants: A retrospective cohort study was conducted of the 29 HCPs who were full members between 2013 and 2019. Outcome measurements and statistical analysis: Data were extracted from the original HCP applications and the ERN continuous monitoring system. Patient volumes, new patient numbers, and procedures were compared between different WSs, countries, and HCPs. Discrepancies between monitoring and application data were identified. Results and limitations: Between 2013 and 2019, 122 040 patients required long-term care within the 29 HCPs. The volume of patients treated and procedures undertaken per year increased over time. Large discrepancies were found between patient numbers contained in the application forms and those reported in the continuous monitoring system (0-1357% deviation). Conclusions: Patient numbers and procedures increased across ERN eUROGEN HCPs. Reliable data extraction appeared challenging, illustrated by the patient volume dis-crepancies between application forms and the continuous monitoring data. Improved disease definitions, re-evaluation of affiliated HCPs, and valid data extraction are needed for future improvements. Patient summary: We analysed the patient population with rare urorectogenital dis-eases or complex conditions within the ERN eUROGEN network between 2013 and 2019. Clinical activity was found to increase, but differences in patient numbers were evident between healthcare providers. In order to acquire valid patient numbers, both improved definitions of diagnostic codes and greater insight into the data-gathering process are required. (c) 2021 The Authors. Published by Elsevier B.V. on behalf of European Association of Urology. This is an open access article under the CC BY license (http://creativecommons. org/licenses/by/4.0/).

Published
2022
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30. Bladder Regeneration Using Multiple Acellular Scaffolds with Growth Factors in a Bladder

Author

Roelofs, Luc A.J., primary, de Jonge, Paul K.J.D., additional, Oosterwijk, Egbert, additional, Tiemessen, Dorien M., additional, Kortmann, Barbara B.M., additional, de Gier, Robert P.E., additional, Versteeg, Elly M.M., additional, Daamen, Willeke F., additional, van Kuppevelt, Toin H., additional, Geutjes, Paul J., additional, and Feitz, Wout F.J., additional

Published
2018
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31. AGORA, a data‐ and biobank for birth defects and childhood cancer

Author

van Rooij, Iris A.L.M., primary, van der Zanden, Loes F.M., additional, Bongers, Ernie M.H.F., additional, Renkema, Kirsten Y., additional, Wijers, Charlotte H.W., additional, Thonissen, Michelle, additional, Dokter, Elisabeth M.J., additional, Marcelis, Carlo L.M., additional, de Blaauw, Ivo, additional, Wijnen, Marc H.W.A., additional, Hoogerbrugge, Peter M., additional, Bokkerink, Jos P.M., additional, Schreuder, Michiel F., additional, Koster‐Kamphuis, Linda, additional, Cornelissen, Elisabeth A.M., additional, Kapusta, Livia, additional, van Heijst, Arno F.J., additional, Liem, Kian D., additional, de Gier, Robert P.E., additional, Kuijpers‐Jagtman, Anne Marie, additional, Admiraal, Ronald J.C., additional, Bergé, Stefaan J., additional, van der Biezen, Jan Jaap, additional, Verdonck, An, additional, Vander Poorten, Vincent, additional, Hens, Greet, additional, Roosenboom, Jasmien, additional, Lilien, Marc R., additional, de Jong, Tom P., additional, Broens, Paul, additional, Wijnen, Rene, additional, Brooks, Alice, additional, Franke, Barbara, additional, Brunner, Han G., additional, Carels, Carine E.L., additional, Knoers, Nine V.A.M., additional, Feitz, Wout F.J., additional, and Roeleveld, Nel, additional

Published
2016
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32. Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study

Author

Groen in 't Woud, Sander, primary, Renkema, Kirsten Y., additional, Schreuder, Michiel F., additional, Wijers, Charlotte H.W., additional, van der Zanden, Loes F.M., additional, Knoers, Nine V.A.M., additional, Feitz, Wout F.J., additional, Bongers, Ernie M.H.F., additional, Roeleveld, Nel, additional, and van Rooij, Iris A.L.M., additional

Published
2016
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35. Bladder Regeneration Using a Smart Acellular Collagen Scaffold with Growth Factors VEGF, FGF2 and HB-EGF

Author

Roelofs, Luc A.J., primary, Oosterwijk, Egbert, additional, Kortmann, Barbara B.M., additional, Daamen, Willeke F., additional, Tiemessen, Dorien M., additional, Brouwer, Katrien M., additional, Eggink, Alex J., additional, Crevels, A. Jane, additional, Wijnen, Rene M.H., additional, van Kuppevelt, Toin H., additional, Geutjes, Paul J., additional, and Feitz, Wout F.J., additional

Published
2016
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36. Reference values for frequency volume chart and uroflowmetry parameters in adolescent and adult enuresis patients.

Author

Hofmeester, Ilse, Brinker, Astrid E., Steffens, Martijn G., Mulder, Zwaan, van Capelle, Jan Willem, Feitz, Wout F.J., and Blanker, Marco H.

Abstract

Aims Reference values of Frequency Volume Chart (FVC) and uroflowmetry parameters for adolescent and adult enuresis patients are lacking. In this study, we aim to describe those parameters, in order to interpret findings from FVCs and uroflowmetries in those patients. Methods Retrospective, descriptive cohort study, concerning 907 patients aged 11 years and older, suffering from enuresis of at least one wet night per fortnight, treated in a secondary/tertiary centre, between 2003 and 2013. The main FVC parameters of interest were: maximum voided volume (MVV), 24 hr urine production and nocturnal urine volume (NUV) including first morning void (FMV). Nocturnal polyuria (NP) was defined based on both International Children's Continence Society (ICCS, 2014) and International Continence Society (ICS, 2002) definitions. Data of all patients were collected from the medical files. Results Age had an impact on diurnal and nocturnal FVC parameters. Median MVV excluding FMV was 250 ml in the youngest, 11-year-old males and 363 ml in the eldest, ≥18-yr-old males. For females, these values were 230 ml and 310 ml. Median 24 hr urine production increased from 1,025 ml to 1,502 ml (males) and from 1,007 ml to 1,557 ml (females). Median NUV showed an increase from 387 ml to 519 ml (males) and from 393 ml to 525 (females). Forty-two percent of men and 30% of women had a small MVV (for age). Prevalence of NP differed when assessed by the ICS or the ICCS definition: following ICS guidelines, NP was present in 96% of our male and 93% of our female population, compared to 27% and 41%, respectively, following ICCS guidelines. Conclusions Both small MVV and NP were found frequently in our adolescent and adult enuresis patients, which is in line with the current thoughts on causal factors. NP prevalence is quite different when using ICS or ICCS definitions, respectively. We would like to encourage the development of an unambiguous definition of NP to use both in pediatric and adult urology. Neurourol. Urodynam. 36:463-468, 2017. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2017
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39. Interaction between MTHFR 677C>T and periconceptional folic acid supplementation in the risk of Hypospadias.

Author

Dokter, Elisabeth M.J., van Rooij, Iris A.L.M., Wijers, Charlotte H.W., Groothuismink, Johanne M., van der Biezen, Jan Jaap, Feitz, Wout F.J., Roeleveld, Nel, and van der Zanden, Loes F.M.

Abstract

Background Hypospadias is a congenital malformation with both environmental factors and genetic predisposition involved in the pathogenesis. The role of maternal periconceptional folic acid supplement use in the development of hypospadias is unclear. As folate levels may also be influenced by the C677T polymorphism in the methylenetetrahydrofolate reductase ( MTHFR) gene, we hypothesize that a gene-environment interaction between this polymorphism and folic acid use is involved in the etiology of hypospadias. Methods We conducted a case-control study among 855 hypospadias cases and 713 population-based controls from the AGORA data- and biobank. Folic acid supplement use was derived from maternal questionnaires and infant and maternal DNA was used to determine the MTHFR C677T polymorphism using Taqman assays. We performed separate analyses for different hypospadias phenotypes (anterior/middle/posterior). Results Hypospadias was neither associated with folic acid use or the MTHFR C677T polymorphism, nor with their interaction. However, we did find an association with middle hypospadias when no supplements were used (odds ratio = 1.6; 95% confidence interval, 1.1-2.4), especially in infants carrying the CT/TT genotype (odds ratio = 2.5; 95% confidence interval, 1.4-4.7). In addition, more infants with these genotypes seemed to have posterior hypospadias, regardless of folic acid use. Conclusion Our study does not suggest a major role for folic acid supplements or the MTHFR C677T polymorphism in the etiology of hypospadias in general, but not using folic acid and/or carrying the MTHFR C677T polymorphism may be associated with middle and posterior hypospadias. Therefore, we stress the importance of studying gene-environment interactions preferably in stratified analyses for different hypospadias phenotypes. Birth Defects Research (Part A) 106:275-284, 2016. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2016
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40. Improving the Cell Distribution in Collagen-Coated Poly-Caprolactone Knittings

Author

Sun, Weilun, primary, Tiemessen, Dorien M., additional, Sloff, Marije, additional, Lammers, Rianne J., additional, de Mulder, Eric L.W., additional, Hilborn, Jöns, additional, Gupta, Bhuvanesh, additional, Feitz, Wout F.J., additional, Daamen, Willeke F., additional, van Kuppevelt, Toin H., additional, Geutjes, Paul J., additional, and Oosterwijk, Egbert, additional

Published
2012
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44. Fetal Bladder Wall Regeneration with a Collagen Biomatrix and Histological Evaluation of Bladder Exstrophy in a Fetal Sheep Model

Author

Roelofs, Luc A.J., primary, Eggink, Alex J., additional, Hulsbergen-van de Kaa, Christina A., additional, Wijnen, Rene M.H., additional, van Kuppevelt, Toin H., additional, van Moerkerk, Herman T.B., additional, Crevels, A. Jane, additional, Hanssen, Alex, additional, Lotgering, Fred K., additional, van den Berg, Paul P., additional, and Feitz, Wout F.J., additional

Published
2008
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45. Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study.

Author

Rooij, Iris A.L.M., Zanden, Loes F.M., Brouwers, Marijn M., Knoers, Nine V.A.M., Feitz, Wout F.J., and Roeleveld, Nel

Subjects
HYPOSPADIAS, CONTRACEPTIVES, PREGNANCY complications, MULTIPLE pregnancy, OBESITY
Abstract

What's known on the subject? and What does the study add? The various phenotypes of hypospadias may result from disturbances of dissimilar embryonic processes in different time windows, suggesting aetiological heterogeneity; however, only a few studies have investigated the risk factors for the different hypospadias phenotypes., The study confirmed that genetic predisposition possibly plays a role in anterior and middle hypospadias, as shown by the large effect estimates for familial occurrence of these forms of hypospadias. By contrast, the posterior phenotype was more often associated with pregnancy-related factors, such as primiparity, preterm delivery, and being small for gestational age. New findings were that hormone-containing contraceptive use after conception increased the risk of middle and posterior hypospadias, while multiple pregnancies were associated with the posterior form in particular., Objective To identify specific risk factors for different phenotypes of hypospadias that may arise as a result of dissimilar embryonic processes in different time windows., Patients and Methods A total of 405 hypospadias cases and 627 male controls were included in a Dutch case-control study., Medical records of cases were reviewed to determine the anatomical location of the urethral opening, while demographic, lifestyle and pregnancy-related risk factor data were obtained from self-administered questionnaires., Multivariable and multinomial logistic regression analyses were used to calculate effect estimates for the group containing all cases of hypospadias and for the different hypospadias phenotypes., Results Cases were subdivided into anterior (glandular and coronal; 59%), middle (penile; 29%) and posterior (penoscrotal, scrotal and perineal; 12%) hypospadias., Being a twin/triplet, primiparity, preterm delivery, and being small for gestational age were associated with hypospadias, particularly in posterior cases., Family history of hypospadias increased the risk of hypospadias, an effect that seemed to be more predominant in anterior and middle forms., Maternal obesity seemed to increase the risk of hypospadias in general, and hormone-containing contraceptive use during pregnancy especially increased the risk of middle and posterior hypospadias., Conclusions Our study provides some indications for aetiological heterogeneity of hypospadias, separating anterior and middle phenotypes from posterior hypospadias., Future research should continue to try to establish which specific risk factors and mechanisms may differ according to hypospadias phenotype. [ABSTRACT FROM AUTHOR]

Published
2013
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