Genome-wide association studies (GWAS) have identified over 300 loci associated with the inflammatory bowel diseases (IBD), but putative causal genes for most are unknown. We conducted the largest disease-focused expression quantitative trait loci (eQTL) analysis using colon tissue from 252 IBD patients to determine genetic effects on gene expression and potential contribution to IBD. Combined with two non-IBD colon eQTL studies, we identified 194 potential target genes for 108 GWAS loci.
View Article and Find Full Text PDFOtolaryngol Head Neck Surg
September 2024
Objective: Evaluate the management options for congenital nasal pyriform aperture stenosis (CNPAS).
Study Design: Case series.
Setting: Tertiary referral children's hospital.
Background And Purpose: Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
January 2024
Objective: To provide recommendations for a comprehensive management approach for infants and children presenting with symptoms or signs of aspiration.
Methods: Three rounds of surveys were sent to authors from 23 institutions worldwide. The threshold for the critical level of agreement among respondents was set at 80 %.