Background: Pathogenic variants in may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in -related disease but there are limited outcomes data on vascular events in this condition.
Methods: Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) variants enrolled in the Montalcino Aortic Consortium registry were reviewed.
Proteolysis-targeting chimeras (PROTACs) represent a new therapeutic modality involving selectively directing disease-causing proteins for degradation through proteolytic systems. Our ability to exploit targeted protein degradation (TPD) for antibiotic development remains nascent due to our limited understanding of which bacterial proteins are amenable to a TPD strategy. Here, we use a genetic system to model chemically-induced proximity and degradation to screen essential proteins in Mycobacterium smegmatis (Msm), a model for the human pathogen M.
View Article and Find Full Text PDFEnzymes involved in rescuing stalled ribosomes and recycling translation machinery are ubiquitous in bacteria and required for growth. Peptidyl tRNA drop-off is a type of abortive translation that results in the release of a truncated peptide that is still bound to tRNA (peptidyl tRNA) into the cytoplasm. Peptidyl tRNA hydrolase (Pth) recycles the released tRNA by cleaving off the unfinished peptide and is essential in most bacteria.
View Article and Find Full Text PDFToxin-antitoxin (TA) systems allow bacteria to adapt to changing environments without altering gene expression. Despite being overrepresented in Mycobacterium tuberculosis, their physiological roles remain elusive. We describe a TA system in M.
View Article and Find Full Text PDFCardiovasc Digit Health J
April 2022
Background: Telehealth (TH) visits have been growing with exponential increased utilization during the COVID-19 pandemic. The aim of this manuscript is to describe the implementation and early experience of a pediatric electrophysiology (EP) TH program implemented during the pandemic, assessing patient satisfaction, patient equity and inclusion (measured by geographical outreach), and sustainability.
Methods: A retrospective chart review study was performed and data were collected from the medical record, including demographic, testing, and billing data from scheduled TH encounters between March and August 2020 of a single pediatric EP group in the Midwest.