Complex diseases often have distinct mechanisms spanning multiple tissues. We propose tissue-gene fine-mapping (TGFM), which infers the posterior inclusion probability (PIP) for each gene-tissue pair to mediate a disease locus by analyzing summary statistics and expression quantitative trait loci (eQTL) data; TGFM also assigns PIPs to non-mediated variants. TGFM accounts for co-regulation across genes and tissues and models uncertainty in cis-predicted expression models, enabling correct calibration.
View Article and Find Full Text PDFObjective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.
Background: Keratoconus in children is often more severe and rapidly progressive compared to adults. While Scheimpflug imaging (Pentacam) improves screening, there are no established pediatric guidelines. Due to challenges in diagnosis, we aimed to correlate clinical factors with abnormal imaging results to aid in the development of screening protocols.
View Article and Find Full Text PDFplays a significant role in nosocomial infections and spreading antibiotic resistance, and therefore forms a major threat to public health. In this study, we investigated the role of the wastewater pathway in the spread of pathogenic bacteria and more specifically, in the spread of antibiotic resistant subspecies. Whole-genome sequencing was performed of 185 isolates collected from hospital, nursing home, and community wastewater, the receiving wastewater treatment plant (WWTP), and clinical isolates from the investigated hospital.
View Article and Find Full Text PDFPurpose: To determine the direct medical costs and cost-effectiveness of globe salvage compared with primary enucleation in patients with advanced retinoblastoma.
Methods: Patients with International Classification of Retinoblastoma groups C-E retinoblastoma at a single institution from 2001 to 2021 were categorized into two groups: primary enucleation and globe salvage. Hospital visits and treatments were compared to determine differences in care utilization.