Publications by authors named "Teresa Strickland"
Article Synopsis
- Rare genetic diseases like Type 5 Long QT Syndrome (LQT5) are often underdiagnosed due to limited studies in referral populations, leading to skewed insights into these conditions.
- A new method was developed to identify undiagnosed LQT5 carriers in a broader population, leading to the discovery of 22 additional individuals sharing a specific genetic variant linked to LQT5.
- The analysis revealed that both referred and non-referred carriers have a prolonged QT interval, and a specific polygenic score can predict QT prolongation among those with the variant, enhancing the understanding of LQT5's impact.
Identifying acute events as they occur is challenging in large hospital systems. Here, we describe an automated method to detect 2 rare adverse drug events (ADEs), drug-induced torsades de pointes and Stevens-Johnson syndrome and toxic epidermal necrolysis, in near real time for participant recruitment into prospective clinical studies. A text processing system searched clinical notes from the electronic health record (EHR) for relevant keywords and alerted study personnel via email of potential patients for chart review or in-person evaluation.
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