RESUMEN
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excess iron absorption in the body following a mutation in the HFE gene. Though prolonged iron deposition has been shown to cause clinical symptoms such as hyperpigmentation, arthralgias, and liver damage, many individuals remain asymptomatic and exhibit no signs of iron overload. Here, we present a case where a 34-year-old with a history of severe alcohol use disorder presented with high iron, ferritin and transferrin saturation levels indicative of iron overload. Further testing for HFE gene mutations revealed simple heterozygote C282Y status, confirming the diagnosis of hereditary hemochromatosis. Simple heterozygotes, however, typically do not present with any symptoms of iron overload. This patient was counseled on lifestyle modifications which included abstaining from alcohol and reducing iron and vitamin C intake. As a result, his iron panel parameters improved. Thus, our case highlights that excessive alcohol consumption can exacerbate hereditary hemochromatosis and risk for overload even among heterozygotes.
RESUMEN
BACKGROUND: Pregnant and post-partum women with opioid dependence are an extremely vulnerable population within correctional facilities. A significant number of maternal inmates, however, still lack adequate provision of medications for opioid use disorder (OUD) and are subsequently forced into withdrawal. Currently, there exist no comprehensive reviews on the scope of literature regarding the management of this population. We aimed to provide a review on the research surrounding these women. DESIGN: A systematic search of PubMed Central was conducted to identify studies evaluating OUD among pregnant and post-partum incarcerated women. Citations from only the last 20 years were included to ensure both relevance and scope of information. RESULTS: The topics that emerged from this review included medications for OUD (MOUD) administration vs detoxification practices, treatment upon incarceration and upon release, and maternal and fetal outcomes. Across all articles, current care management of this population appeared inadequate. We further compiled all author recommendations and perspectives into a framework that can inform potential improvements in care coordination. CONCLUSIONS: This review identifies significant gaps in current management-particularly regarding administration of MOUDs-and emphasizes the need for standardization of addiction-related and perinatal healthcare. We also highlight gaps in the literature and potential areas for future research.
RESUMEN
Accumulated studies have suggested that bone morphogenetic proteins (BMPs) are critical for skin development. However, it remains elusive how BMP signaling via ALK2 (aka ACVR1), one of the important BMP type I receptors, regulates keratinocyte differentiation. To address this question, we utilized a genetic system that enhances BMP signaling via ALK2 in an epidermis-specific manner in mice (hereafter ca-Alk2:K14-Cre). Ca-Alk2:K14-Cre mice displayed a sticky and hairless skin phenotype with a thinner epidermis incapable of differentiating. Although cellular proliferation and survival were comparable between wild-type and ca-Alk2:K14-Cre mice, skin differentiation was severely hampered in ca-Alk2:K14-Cre mice. To uncover the mechanism of altered keratinocyte differentiation, we performed a transcriptome analysis. As a result, we found that the expression levels of cell cycle inhibitor p21 were increased in ca-Alk2:K14-Cre mice. Our findings suggest that aberrant BMP signaling via ALK2 positively regulates p21 expression that attenuates keratinocyte differentiation, and further highlights the critical role of BMP signaling in skin development.
