0000000000089720
AUTHOR
Barbara Ludwikowski
showing 3 related works from this author
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
2020
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…
Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany
2018
Introduction: Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. Therefore, the aim of the study was to evaluate how affected individuals get along with the current national medical care and what their medical or social long-term requirements are. Patients and Methods: Between 11/2014-07/2016 all adult members (≥18 years, ARM n = 113, EEC n = 126) of the German self-help organizations SoMA e.V. and Blasenekstrophie/Epispadie e.V. were contacted via email or post and asked to fill out an anonymous online questionnaire regarding medical requirements, treatment satisfaction, daily life impairment and expectations rega…
Reflections on the 25th Congress of the European Society for Pediatric Urology Part 1
2014
The 25th annual meeting of the European Society for Pediatric Urology (ESPU) took place in Innsbruck, Austria from the 7th to 10th of May 2014. The Specialty Chief Editor and nine Associate editors of Frontiers in Pediatrics, Pediatric Urology were in attendance. Each was asked to select the two presentations that they considered most significant. Here, we highlight some of the papers that we found of particular interest and that may impact our practices. This report reflects personal preferences of the authors and does not pretend to be comprehensive or to rank the quality of the presentations. We are aware that some important presentations may not be included. Our selections are presented…