Kinderurologie en etiologie: Radboudumc AGORA data- en biobank

Autor: I.A.L.M. van Rooij, Han G. Brunner, Ernie M.H.F. Bongers, R.P.E. de Gier, Nel Roeleveld, Michiel F. Schreuder, Nine V A M Knoers, L.F.M. Van Der Zanden, K.Y. Renkema, Barbara B.M. Kortmann, Elisabeth Mj Dokter, Wout F.J. Feitz
Rok vydání: 2015
Předmět:
medicine.medical_specialty
vesico-ureteral reflux
aetiology
media_common.quotation_subject
blaasextrofie
Urology
Paediatric urology
medicine
kinderurologie
hypospadias
media_common
Gynecology
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]
hypospadie
Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6]
undescended testis
Art
vesico-ureterale reflux
maldescensus testis
Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]
biobank
Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]
Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]
etiologie
paediatric urology
bladder exstrophy
Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Zdroj: Tijdschrift voor Urologie, 5(1), 3. Springer Science + Business Media
Nederlands Tijdschrift voor Urologie, 1, 3-7
Nederlands Tijdschrift voor Urologie, 1, pp. 3-7
ISSN: 0929-0184
2211-3037
Popis: Introduction:: The research into the question ‘why does my child have this anomaly?’, or the aetiology of paediatric urology anomalies, started in 2002. For this purpose a project plan was submitted to the Internal Review Board on Human Studies to collect blood and additional information with a time schedule of 25 years. These data are currently stored in the Radboudumc AGORA data- en biobank. Methods:: The basic collection of the Radboudumc AGORA data- and biobank data consists of the clinical diagnostic information, questionnaires and genetic material. To collect, use and distribute these data and materials an information brochure, informed consent forms, a collaboration contract, a study request form and a material transfer agreement (MTA) are part of the project. The AGORA program is a collaboration between clinical departments, epidemiology and genetics. Results:: In 2014 there is a collection of biobank data of 1,836 urological and 616 uro-nefrological patients. Most research has been performed into the anomaly hypospadias and recently an international collaboration concerning these patients was established. Furthermore studies were performed concerning undescended testis, vesico-ureteral reflux and bladder exstrophy. A summary of the different publications is hereby presented. Conclusion:: Different studies have been performed concerning the etiological aspects of hypospadias from which known and new findings were discovered. Currently, the aetiology cannot be totally explained by the environmental and genetic factors found, but step by step new associations are being found. In small studies and within (inter)national collaborations new results were also found for undescended testis, vesico-ureteral reflux and bladder exstrophy. For this kind of studies a pleasant and productive collaboration with all people involved, clear appointments and contracts, and good logistic procedures play an essential role.
Databáze: OpenAIRE
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