Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic diseases. Yet, variants of unknown significance (VUS) require rigorous validation to establish disease causality or modification, or to exclude them from further analysis. Here, we describe a young individual of Polynesian ancestry who in the first 13 mo of life presented with SARS-CoV-2 pneumonia, severe enterovirus meningitis and adenovirus gastroenteritis, and severe adverse reaction to MMR vaccination.
View Article and Find Full Text PDFThe thermal decomposition of perfluorooctanoic acid (PFOA) under oxidative conditions was investigated using air (O) and NO as oxidants over temperatures ranging from 400 to 1000 °C in an α-alumina reactor. In the presence of air, PFOA was found to decompose into perfluorohept-1-ene (CF) and perfluoroheptanoyl fluoride (CFO) in addition to HF, CO, and CO. At temperatures above 800 °C, both CF and CFO were no longer detected.
View Article and Find Full Text PDF