Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a variant by delineating the clinical presentation in two siblings.
View Article and Find Full Text PDFThe Covid-19 pandemic challenged health care delivery systems worldwide. Many acute care hospitals in communities that experienced surges in cases and hospitalizations had to make decisions such as rationing scarce resources. Hospitals serving low-income communities, communities of color, and those in other historically marginalized or vulnerable groups reported the greatest operational impacts of surges.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
November 2024
Purpose: To identify pediatric patient and appointment characteristics associated with no-show status at a tertiary care pediatric ophthalmology clinic within a U.S. academic ophthalmology department.
View Article and Find Full Text PDFToxic shock syndrome (TSS) is a life-threatening complication of infection typically caused by one of two bacterial species: and The outcomes in children with TSS can be devastating. Careful consideration of TSS is required as a potential differential diagnosis of children presenting with sepsis or severe illness associated with fever and rash.
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