Background:Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to profound abnormalities. We described the therapeutic course for a rare syndrome diagnosed by whole exome sequencing caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC), characterized by neurological deficits and alopecia.Methods:N-acetylputrescine levels with other metabolites were measured using ultra-performance liquid chromatography paired with mass spectrometry and Z-scores established against a reference cohort of 866 children.Results:From previous studies and metabolic profiles, eflornithine was identified as potentially beneficial with therapy initiated on FDA approval. Eflornithine normalized polyamine levels without disrupting other pathways. She demonstrated remarkable improvement in both neurological symptoms and cortical architecture. She gained fine motor skills with the capacity to feed herself and sit with support.Conclusions:This work highlights the strategy of repurposing drugs to treat a rare disease.Funding:No external funding was received for this work.

Objectives: To identify the barriers to accessing health care and social services faced by people who inject drugs (PWID) during the coronavirus disease 2019 (COVID-19) pandemic. Methods: This report is a sub-analysis of a larger qualitative study. Semi-structured interviews were conducted with PWID admitted to an academic medical center from 2017 to 2020 for an invasive injection-related infection. Standard qualitative analysis techniques, consisting of both inductive and deductive approaches, were used to identify and characterize the effects of COVID-19 on participants. Results: Among the 30 PWID interview participants, 14 reported barriers to accessing health and addiction services due to COVID-19. As facilities decreased appointment availability or transitioned to telemedicine, PWID reported being unable to access services. Social distancing led to isolation or loneliness during hospital stays and in the community. Recovery meetings and support groups, critical to addiction recovery, were particularly affected. Other participants reported that uncertainty and fear of contracting the virus generated changes in behavior that led them to avoid seeking services. Conclusions: COVID-19 has disrupted health systems and social services, leading PWID to experience unprecedented barriers to accessing and maintaining health and addiction services in both inpatient and outpatient settings. Opioid use disorder management must be understood as a holistic process, and a multidisciplinary approach to ensuring comprehensive care, even in the midst of this pandemic, is needed.

In pediatric trauma patients, transfusion of packed RBC and use of older RBC units are associated with higher risk of adverse outcomes independent of injury severity.