Publications by authors named "O Breuer"
Article Synopsis
- Next-generation sequencing and data exchange platforms have greatly improved molecular diagnoses for families by using a semi-automated genematching algorithm focused on genotype and phenotype matching.
- The study involved analyzing rare homozygous variants from a database of about 12,000 exomes and calculating phenotype similarity scores to identify correlations between affected individuals.
- The approach successfully identified 33,792 genotype-matched pairs across unique genes, highlighting the effectiveness of this method in isolating candidates for disease-related genes and improving the understanding of variants of uncertain significance.
Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are associated with sleep disturbances affecting quality of life (QOL) in both children and adults. However, little is known about the progression of these complaints over time, and the effect of CFTR modulator (CFTRm) therapies. Participants completed sleep quality (SDSC, PSQI) and quality of life questionnaires (PedQL, QOL-BE) as well as the Epworth sleepiness scale (ESS) at baseline and after 4 years.
View Article and Find Full Text PDFBackground: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) significantly improves health outcomes in people with cystic fibrosis (pwCF) carrying one or two F508del mutations. According to in vitro assays performed in FRT cells, 178 additional mutations respond to ELX/TEZ/IVA. The N1303K mutation is not included in this list of mutations.
View Article and Find Full Text PDFAim: To examine the clinical significance of thrombocytosis (platelets > 500 × 10 /L) in admitted children with an influenza-like illness.
Methods: We performed a database analysis consisting of patients evaluated at our medical centers with an influenza-like illness between 2009 and 2013. We included paediatric patients and examined the association between platelet count, respiratory viral infections, and admission outcomes (hospital length of stay and admission to the paediatric intensive care unit) using regression models adjusting for multiple variables.