Examining the Role of Diagnosis in the Emergency Department Experience

Study Objective: To explore the social, functional, and emotional needs that patients want addressed when seeking a diagnosis at their ED visit.https://jdc.jefferson.edu/cwicposters/1037/thumbnail.jp

Understanding Patient Uncertainty as a Driver of Emergency Department Utilization: A Concept Mapping Approach

Background and Purpose Most previous research regarding factors associated with increased risk of emergency department (ED) use has been done via retrospective review of medical records rather than obtaining patients’ perspectives. Recent research identified patient uncertainty related to symptoms as a primary motivator for seeking ED care, and ongoing uncertainty at the time of ED discharge as an unmet need (Rising et al. 2015; Rising, Hudgins, Reigle, Hollander, & Carr 2016). While providers have limited ability to influence many factors identified by retrospective medical record review (e.g. financial concerns), patient uncertainty can be addressed by providers directly. To do so we must first define domains of uncertainty that patients experience in order to inform targeted interventions to address patient uncertainty. The objective of this research was to engage patients through group concept mapping (GCM) to conceptualize the domains of uncertainty that contribute to decisions to seek care in the ED.https://jdc.jefferson.edu/emposters/1000/thumbnail.jp

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

<p>Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide prevalence varies geographically with the highest figures reported in populations of European ancestry. HD in South Africa has been reported in Caucasian, black and mixed subpopulations, with similar estimated prevalence in the Caucasian and mixed groups and a lower estimate in the black subpopulation. Recent studies have associated specific HTT haplotypes with HD in distinct populations. Expanded HD alleles in Europe occur predominantly on haplogroup A (specifically high-risk variants A1/A2), whereas in East Asian populations, HD alleles are associated with haplogroup C. Whether specific HTT haplotypes associate with HD in black Africans and how these compare with haplotypes found in European and East Asian populations remains unknown. The current study genotyped the HTT region in unaffected individuals and HD patients from each of the South African subpopulations, and haplotypes were constructed. CAG repeat sizes were determined and phased to haplotype. Results indicate that HD alleles from Caucasian and mixed patients are predominantly associated with haplogroup A, signifying a similar European origin for HD. However, in black patients, HD occurs predominantly on haplogroup B, suggesting several distinct origins of the mutation in South Africa. The absence of high-risk variants (A1/A2) in the black subpopulation may also explain the reported low prevalence of HD. Identification of haplotypes associated with HD-expanded alleles is particularly relevant to the development of population-specific therapeutic targets for selective suppression of the expanded HTT transcript.</p>