ABSTRACT
BACKGROUND: Organic acidemias are rare genetic mutations, most commonly identified in the newborn period. Late-onset presentations present a diagnostic conundrum. Early identification and appropriate management can be lifesaving. CASE REPORT: We describe the case of a 3-year-old boy who presented to urgent care with 2 days of nausea, vomiting, and diarrhea followed by respiratory distress, shock, and encephalopathy. Brisk recognition of his shock state led to an urgent transfer to a tertiary care pediatric emergency department by air where his shock was treated and hyperammonemia was uncovered, leading to the diagnosis of late-onset propionic acidemia, which was subsequently managed with a good outcome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Late-onset presentations of inborn errors of metabolism, including organic acidemias, represent one of the most challenging pediatric cases an emergency physician can encounter. This case reviews the management and diagnosis of a late-onset inborn error of metabolism and emphasizes how prompt diagnosis and treatment can lead to a favorable outcome.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Hyperammonemia , Propionic Acidemia , Infant, Newborn , Male , Child , Humans , Child, Preschool , Propionic Acidemia/diagnosis , Propionic Acidemia/therapy , Dehydration/diagnosis , Dehydration/etiology , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Vomiting/etiology , Emergency Service, HospitalABSTRACT
We consider a model that distinguishes susceptible; infected, but not yet infectious; pre-symptomatic, symptomatic, asymptomatic, and hospitalized infectious; recovered and dead members of two groups: healthcare workers (HCW) and members of the community that they serve. Because of the frequency or duration of their exposures to SARS-CoV-2, a greater fraction of HCW would experience severe COVID-19 symptoms that require medical care, which reduces mortality rates, absent personal protective equipment (PPE). While N95 masks (and, possibly, other scarce medical resources) are available to members of both groups, they do not use them equally well (i.e. efficacy and compliance differ). We investigated the optimal allocation of potentially scarce medical resources between these groups to control the pandemic and reduce overall infections and mortality via derivation and analysis of expressions for the reproduction numbers and final size. We also simulated prevalence and cumulative incidence, quantities relevant to surge capacity and population immunity, respectively. We found that, under realistic conditions, the optimal allocation is virtually or entirely to HCW, but that allocation of surplus masks and other medical resources to members of the general community also reduces infections and deaths.