Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent to which this subtype-based classification system accurately captures the landscape of phenotypic variation among GSD IV patients has not been systematically assessed.Methods: This study synthesized clinical data from all eligible cases of GSD IV in the published literature to evaluate whether this disorder is better conceptualized as discrete subtypes or a clinical continuum. A novel phenotypic scoring approach was applied to characterize the extent of hepatic, neuromuscular, and cardiac involvement in each eligible patient.Results: 146 patients met all inclusion criteria. The majority (61%) of those with sufficient data to be scored exhibited phenotypes that were not fully consistent with any of the established subtypes. These included patients who exhibited combined hepatic-neuromuscular involvement; patients whose phenotypes were intermediate between the established hepatic or neuromuscular subtypes; and patients who presented with predominantly cardiac disease.Conclusion: The application of this novel phenotypic scoring approach showed that–in contrast to the traditional subtype-based view–GSD IV may be better conceptualized as a multidimensional clinical continuum, whereby hepatic, neuromuscular, and cardiac involvement occur to varying degrees in different patients.
Introduction
Medication reconciliation, a technique that assists in aligning a care team's understanding of an individual's true medication regimen, is vital to optimize medication use and prevent medication errors. Historically, most medication reconciliation research has focused on institutional settings and transitional care, with comparatively little attention given to medication reconciliation in community settings. To optimize medication reconciliation for community‐dwelling older adults, healthcare professionals and older adults must be engaged in co‐designing processes that create sustainable approaches.
Methods
Academic researchers, older adults, and community‐ and health system‐based healthcare professionals engaged in a participatory process to better understand medication reconciliation barriers and co‐design solutions. The initiative consisted of two participatory research approaches: (1) Sparks Innovation Studios, which synthesized professional expertise and opinions, and (2) a Community Consultation Studio with older adults. Input from both groups informed a list of possible solutions and these were ranked based on evaluative criteria of feasibility, person‐centeredness, equity, and sustainability.
Results
Sparks Innovation Studios identified a lack of ownership, fragmented healthcare systems, and time constraints as the leading barriers to medication reconciliation. The Community Consultation Studio revealed that older adults often feel dismissed in medical encounters and perceive poor communication with and among providers. The Community Consultation Studio and Sparks Innovation Studios resulted in four highly‐ranked solutions to improve medication reconciliation: (1) support for older adults to improve health literacy and ownership; (2) ensuring medication indications are included on prescription labels; (3) trainings and incentives for front‐line staff in clinic settings to become champions for medication reconciliation; and (4) electronic health record improvements that simplify active medication lists.
Conclusion
Engaging community representatives with academic partners in the research process enhanced understanding of community priorities and provided a practical roadmap for innovations that have the potential to improve the well‐being of community‐dwelling older adults.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.