Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.
View Article and Find Full Text PDFHead and neck squamous cell carcinoma (HNSCC) with discordant diagnostic patterns of HPV/p16 or HPV/p16 correlate with worse prognosis. This study aims to identify truly HPV-driven HNSCCs using a QuantiGene-Molecular-Profiling-Histology (QG-MPH) assay for identifying transcriptionally active HPV. Of 97 FFPE samples analyzed, 68 were valid for HPV DNA detection by PCR and quantification of HPV E7 and p16 mRNA by QG-MPH.
View Article and Find Full Text PDFBackground: Egg-based inactivated quadrivalent seasonal influenza vaccine (eIIV4), cell culture-based inactivated quadrivalent seasonal influenza vaccine (ccIIV4), and recombinant haemagglutinin (HA)-based quadrivalent seasonal influenza vaccine (RIV4) have been licensed for use in the USA. In this study, we used antigen-specific serum proteomics analysis to assess how the molecular composition and qualities of the serological antibody repertoires differ after seasonal influenza immunisation by each of the three vaccines and how different vaccination platforms affect the HA binding affinity and breadth of the serum antibodies that comprise the polyclonal response.
Methods: In this comparative, prospective, observational cohort study, we included female US health-care personnel (mean age 47·6 years [SD 8]) who received a single dose of RIV4, eIIV4, or ccIIV4 during the 2018-19 influenza season at Baylor Scott & White Health (Temple, TX, USA).
Despite annual vaccination, influenza B viruses (IBV) continue to cause significant morbidity and mortality in humans. We have found that IBV infection resulted in a weaker innate and adaptive immune response than influenza A viruses (IAV) in ferrets. To understand and overcome the weak immune responses to IBV in ferrets, we administered type-I or type-III interferon (IFN) to ferrets following infection or vaccination and evaluated their effects on the immune response.
View Article and Find Full Text PDFBackground: Several studies have advocated the use of ultrasound to diagnose distal forearm fractures in children. However, there is limited data on the diagnostic accuracy of ultrasound for distal forearm fractures when conducted by pediatric surgeons or trainees who manage orthopedic injuries in children. The objective of this study was to determine the diagnostic accuracy of point-of-care ultrasound (POCUS) for pediatric distal forearm fractures when conducted by pediatric surgeons and trainees after minimal training.
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