Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey

Autor: Paola Midrio, Iris A. L. M. van Rooij, Giulia Brisighelli, Aracelli Garcia, Maria Fanjul, Paul Broens, Barbara D. Iacobelli, Carlos Giné, Gabriele Lisi, Cornelius E. J. Sloots, Francesco Fascetti Leon, Anna Morandi, Herjan van der Steeg, Stefan Giuliani, Sabine Grasshoff-Derr, Martin Lacher, Ivo de Blaauw, Ekkehart Jenetzky

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)

Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted b

Externí odkaz: https://doaj.org/article/3d85f2a9fb5441599c74234dedf12c60

A Quality Assessment of the ARM-Net Registry Design and Data Collection

Autor: Isabel C. Hageman, Hendrik J.J. van der Steeg, Ekkehart Jenetzky, Misel Trajanovska, Sebastian K. King, Ivo de Blaauw, Iris A.L.M. van Rooij, Dalia Aminoff, Eva Amerstorfer, Holger Till, Piero Bagolan, Barbara Iacobelli, Hakan Çavuşoğlu, Onur Ozen, Stefan Deluggi, Johanna Ludwiczek, Emre Divarci, María Fanjul, Francesco Fascetti-Leon, Araceli García Vázquez, Carlos Giné, Ramon Gorter, Justin de Jong, Jan Goseman, Martin Lacher, Caterina Grano, Sabine Grasshoff-Derr, Michel Haanen, Ernesto Leva, Anna Morandi, Gabriele Lisi, Igor Makedonsky, Carlo Marcelis, Paola Midrio, Marc Miserez, Mazeena Mohideen, Alessio PiniPrato, Carlos Reck-Burneo, Heiko Reutter, Stephan Rohleder, Inbal Samuk, Eberhard Schmiedeke, Nicole Schwarzer, Pim Sloots, Pernilla Stenström, Chris Verhaak, Alejandra Vilanova-Sánchez, Patrick Volk, Marieke Witvliet

Publikováno v: Journal of pediatric surgery. W.B. Saunders Ltd

Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the qualit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0268d59bc5995a8ad39f1e71184707bb
http://www.scopus.com/inward/record.url?scp=85152273978&partnerID=8YFLogxK

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Autor: Jillian N. Pearring, Jason R. Willer, Joachim Wolf, Mattias Van Heetvelde, Heidi Stöhr, Anne-Françoise Roux, Heidi Rossmann, Nafisa Nuzhat, David Rosenkranz, Jennifer Winter, Sabine Grasshoff-Derr, Kristof Van Schil, Sandra Liakopoulos, Robert Merget, Luke Mansard, Miriam Bauwens, Hanh Truong, Hanno J. Bolz, Peter Nürnberg, Nuria Gruartmoner, Holger Thiele, U. Zechner, Anne Hoorens, Alfredo Dueñas Rey, Thomas Langmann, Melanie Jäger, Karl Martin Wissing, Stephan Käseberg, Friederike Häuser, Jo Van Dorpe, Elfride De Baere, Michel Van Lint, Katharina Dannhausen

Ciliopathies often comprise retinal degeneration since the photoreceptors outer segment is an adapted primary cilium. CEP162 is a distal end centriolar protein required for proper transition zone assembly during ciliogenesis and whose loss causes cil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6b89eeab7b6bbfdacb15c2e8642daa6
https://doi.org/10.1101/2021.11.23.469779

Autorinnen und Autoren

Autor: Prof. Dr. med. Guido Fitze, Prof. Dr. med. Jörg Fuchs, Dr. med. Sabine Grasshoff-Derr, Univ.-Prof. Dr. med. Martin M. Kaiser, Dr. med. Hans-Joachim Kirschner, Dr. med. Peter Knorr, Dr. med. Ferdinand Kosch, Marc A. Levitt, Dr. med. Andreas Schmidt, Dr. med. Tobias Schuster, Prof. Dr. med. Dr. h. c. Maximilian Stehr, Prof. Dr. med. Lucas M. Wessel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f6366cfc7235a06a23cc8ead958814f4
https://doi.org/10.1016/b978-3-437-24842-9.00017-3

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey

Autor: Paul M. A. Broens, Paola Midrio, Gabriele Lisi, Ekkehart Jenetzky, Iris A.L.M. van Rooij, M Fanjul, Sabine Grasshoff-Derr, Herjan van der Steeg, C. Giné, Giulia Brisighelli, B.D. Iacobelli, Ivo de Blaauw, Anna Morandi, Aracelli Garcia, Francesco Fascetti Leon, Cornelius E. J. Sloots, Stefan Giuliani, Martin Lacher

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatrics
Frontiers in Pediatrics, 8:571. Frontiers Media S.A.
Frontiers in Pediatrics, 8

Aim:Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6817e44035a7eef3b62005bd9c1e73a6
https://doi.org/10.3389/fped.2020.00571