Sudden cardiac death is a leading cause of mortality in children with hypertrophic cardiomyopathy (HCM). The PRecIsion Medicine in CardiomYopathy consortium developed a validated tool (PRIMaCY) for sudden cardiac death risk prediction to help with implantable cardioverter defibrillator shared decision-making, as recommended by clinical practice guidelines. The mplemeting a udden Cardiac Dath isk Assessment ool in hildhood (INSERT-HCM) study aims to implement PRIMaCY into electronic health records (EHRs) and assess implementation determinants and outcomes.
View Article and Find Full Text PDFProgressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare genetic disorder characterized by severe intrahepatic cholestasis, which often manifests in infancy with progressive liver dysfunction. We present the case of a 3-month-old infant with a one-month history of jaundice, vomiting, and bloody stools, presenting a unique set of diagnostic challenges. Initial clinical and laboratory findings indicated significant liver dysfunction, prompting further imaging and genetic analysis.
View Article and Find Full Text PDFEvidence suggests that bats are important hosts of filoviruses, yet the specific species involved remain largely unidentified. Niemann-Pick C1 (NPC1) is an essential entry receptor, with amino acid variations influencing viral susceptibility and species-specific tropism. Herein, we conducted combinatorial binding studies with seven filovirus glycoproteins (GPs) and NPC1 orthologs from 81 bat species.
View Article and Find Full Text PDFIntroduction: Multiple sclerosis (MS) is a chronic immune-mediated demyelinating disease of the CNS, whereby clinical disease activity is primarily monitored by magnetic resonance imaging (MRI).
Methods: Given the limitations associated with implementing and acquiring novel and emerging imaging biomarkers in routine clinical practice, the discovery of biofluid biomarkers may offer a more simple and cost-effective measure that would improve accessibility, standardization, and patient care. Extracellular vesicles (EVs) are nanoparticles secreted from cells under both homeostatic and pathological states, and have been recently investigated as biomarkers in MS.
Background: The robustness and persistence of vaccine antigen-induced antibodies are often used as proxy indicators of vaccine efficacy, but immune responses to vaccine vectors are typically less well-defined. Our study considered the kinetics of immunoglobulin (IgG) responses against the vector (vesicular stomatitis Indiana virus [VSIV]) nucleoprotein (N) and the inserted antigen (Ebola virus [EBOV]) glycoprotein (GP1,2) components of the rVSVΔG-ZEBOV-GP (rVSV-ZEBOV) vaccine and evaluated their use as biomarkers to confirm self-reported vaccination status.
Methods: From the Partnership for Research on Ebola Virus in Liberia (PREVAIL) I clinical trial (NCT02344407), we randomly selected 212 participants who received rVSV-ZEBOV (n=107) or placebo (n=105).