The SARS-CoV-2 virus (COVID-19) became a global pandemic in March 2020. This novel, highly infectious virus caused millions of infections and deaths around the world. Currently, there are few medications that are available for the treatment of COVID-19.
View Article and Find Full Text PDFBackground: The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that "well-established" functional studies can be used as evidence in variant classification. These guidelines articulated key attributes of functional data, including that assays should reflect the biological environment and be analytically sound; however, details of how to evaluate these attributes were left to expert judgment. The Clinical Genome Resource (ClinGen) designates Variant Curation Expert Panels (VCEPs) in specific disease areas to make gene-centric specifications to the ACMG/AMP guidelines, including more specific definitions of appropriate functional assays.
View Article and Find Full Text PDFDifficulty with pill-swallowing ability (PSA) is common in children, yet formal evaluation is rare. The objective of this study was to prospectively evaluate and compare PSA of inpatient and outpatient children using the Pediatric Oral Medications Screener. We identified children aged 3 to 17 years admitted to a general or subspecialty pediatric service at a university hospital or outpatient clinic.
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