Background And Importance: Existing data are limited for determining the medical conditions best suited for an emergency department (ED) redirection strategy in a heterogeneous, nonurgent patient population.
Objective: The aim was to establish factors associated with hospital revisits within 7 days among patients discharged or redirected by a triage team.
Design, Settings, And Participants: An observational single-center case-control study was conducted at the Tampere University Hospital ED for the full calendar year of 2019.
Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ∼⅓ of clinical HMBS variants are missense variants, and most clinically reported HMBS missense variants are designated as "variants of uncertain significance" (VUSs). Using saturation mutagenesis, en masse selection, and sequencing, we applied a multiplexed validated assay to both the erythroid-specific and ubiquitous isoforms of HMBS, obtaining confident functional impact scores for >84% of all possible amino acid substitutions.
View Article and Find Full Text PDFIntern Emerg Med
April 2023
Aim: To evaluate the significance of severe hyponatraemia presented at the emergency department (ED).
Methods: A retrospective hospital records study of all patients with plasma sodium levels of < 116 mmol/l from 2016 to 2020 in a single tertiary referral centre.
Results: A total of 394 visits of 363 individual severely hyponatraemic patients represented 0.
Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically-reported HMBS missense variants are designated as "variants of uncertain significance" (VUS). Using saturation mutagenesis, selection, and sequencing, we applied a multiplexed validated assay to both the erythroid-specific and ubiquitous isoforms of HMBS, obtaining confident functional impact scores for >84% of all possible amino-acid substitutions.
View Article and Find Full Text PDF