Publications by authors named "Aude Fischer"
Article Synopsis
- The study investigates the reliability of two noninvasive liver fibrosis assessments, transient elastography (TE) and point shear-wave elastography using virtual touch quantification (pSWE VTQ), specifically in children with cystic fibrosis (CF).
- Involvement of 56 children with CF allowed for an analysis of repeatability and reproducibility, showing high intraobserver and interobserver agreement for TE and moderate agreement for pSWE VTQ.
- The findings affirm that both TE and pSWE VTQ are dependable methods for evaluating liver fibrosis in children with CF, suggesting they can be used for patient follow-up based on availability in CF care centers.
Background And Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.
Methods: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22].