Background: Propionic acidemia (PA) is an inborn error of metabolism (IEM) that typically presents in the newborn. The Amish of North America have an increased prevalence of PA due to a founder variant in the gene. The Amish PA phenotype is variable, and some individuals remain asymptomatic and undiagnosed until adulthood.
View Article and Find Full Text PDFIn 2022, the U.S. Food and Drug Administration (FDA), the Centers for Disease Control and Prevention (CDC), and state partners conducted a sample-initiated investigation of a multistate outbreak of Senftenberg illnesses linked to peanut butter.
View Article and Find Full Text PDFWe report xerogels prepared from TEMPO-oxidized cellulose nanofiber (Ox-CNF) that have enhanced yield stresses and Young's Modulus (E) up to 15.4 MPa. The xerogels were highly porous (>95 %) and were measured by density determination, SEM, Brunauer-Emmet-Teller (BET) experiments, and microCT analysis.
View Article and Find Full Text PDFAm J Public Health
December 2024
To compare pregnancy-related mortality ratios (PRMRs) associated with COVID-19 by race/ethnicity, by region of residence, and in states with and without Medicaid expansion. We used 2020-2021 data from the US Centers for Disease Control and Prevention's Wide-Ranging Online Data for Epidemiologic Research in our analysis. We stratified PRMRs by race/ethnicity, census regions, and Medicaid expansion and nonexpansion states.
View Article and Find Full Text PDFBackground: Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.
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