Drug-induced liver injury (DILI) remains an active field of clinical research and investigation with more than 4700 publications appearing in 2023 relating to hepatotoxicity of all causes and injury patterns. As in years past, we have attempted to identify and summarize highlights and controversies from the past year's literature. Several new and novel therapeutic agents were approved by the US Food and Drug Administration (FDA) in 2023, a number of which were associated with significant hepatotoxicity.
View Article and Find Full Text PDFElastin (ELN) insufficiency leads to the cardiovascular hallmarks of the contiguous gene deletion disorder, Williams-Beuren syndrome, including hypertension and vascular stiffness. Previous studies showed that Williams-Beuren syndrome deletions, which extended to include the gene, were associated with lower blood pressure (BP) and reduced vascular stiffness. encodes for p47phox, the regulatory component of the NOX1 NADPH oxidase complex that generates reactive oxygen species (ROS) in the vascular wall.
View Article and Find Full Text PDFBackground: Holoprosencephaly is the most common malformation of the forebrain (1 in 250 embryos) with severe consequences for fetal and child development. This study evaluates nongenetic factors associated with holoprosencephaly risk, severity, and gene-environment interactions.
Methods: For this retrospective case control study, we developed an online questionnaire focusing on exposures to common and rare toxins/toxicants before and during pregnancy, nutritional factors, maternal health history, and demographic factors.
Background: Pesticide exposure during susceptible windows and at certain doses are linked to numerous birth defects. Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most common malformation of the forebrain in humans (1 in 250 embryos). No human studies to date have examined the association.
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