Objective: To describe the function of patients with COVID-19 admitted to an acute care hospital early in the pandemic and to characterize change in function among those admitted to intensive care units (ICU) and to non-critical care services.
Design: This descriptive, retrospective cohort study examined patients infected with SARS-CoV-2 admitted to a tertiary care medical center during the first wave of the pandemic in 2020. Included patients were stratified into 4 cohorts based on whether or not they received therapy during their hospitalization and whether or not their hospitalization included time in the ICU.
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1.
View Article and Find Full Text PDFOrphanet J Rare Dis
February 2015
Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover markers (BTM) and to define areas for future research.
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