Assessing the reliability of pediatric emergency medicine billing code assignment for future consideration as a proxy workload measure.

Objectives: Prediction of pediatric emergency department (PED) workload can allow for optimized allocation of resources to improve patient care and reduce physician burnout. A measure of PED workload is thus required, but to date no variable has been consistently used or could be validated against for this purpose. Billing codes, a variable assigned by physicians to reflect the complexity of medical decision making, have the potential to be a proxy measure of PED workload but must be assessed for reliability.

Apolipoprotein C3 induces inflammasome activation only in its delipidated form.

Matters arising regarding the lipidation form of plasma APOC3 that induces an alternative NLRP3 activation pathway.

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Genetic variants in , encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Carnitine Transporter Deficiency (CTD). CTD is potentially lethal but actionable if detected early, with confirmatory diagnosis involving sequencing of . Interpretation of missense variants of uncertain significance (VUSs) is a major challenge.

Genetic Variation among Pharmacogenes in the Sardinian Population.

Pharmacogenetics (PGx) aims to identify the genetic factors that determine inter-individual differences in response to drug treatment maximizing efficacy while decreasing the risk of adverse events. Estimating the prevalence of PGx variants involved in drug response, is a critical preparatory step for large-scale implementation of a personalized medicine program in a target population. Here, we profiled pharmacogenetic variation in fourteen clinically relevant genes in a representative sample set of 1577 unrelated sequenced Sardinians, an ancient island population that accounts for genetic variation in Europe as a whole, and, at the same time is enriched in genetic variants that are very rare elsewhere.

Mental Health Professionals' Positions in Relation to Advance Statements: A Foucauldian Discourse Analysis.

Advance Statements enable mental health patients to have their preferences considered in treatment decisions in the event of losing capacity, but their uptake is poor. This is for complex and often conflicting reasons and factors related to service user, clinician, and institutional priorities, which influence clinical practice. A Foucauldian discourse analysis approach was used to explore how 13 mental health clinicians positioned their role in relation to Advance Statements.