Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.

Pathogenic variants in the type I ryanodine receptor (RYR1) result in a wide range of muscle disorders referred to as RYR1-related myopathies (RYR1-RM). We developed the first RYR1-RM mouse model resulting from co-inheritance of two different RYR1 missense alleles (Ryr1 mice). Ryr1 mice exhibit a severe, early onset myopathy characterized by decreased body/muscle mass, muscle weakness, hypotrophy, reduced RYR1 expression, and unexpectedly, incomplete postnatal lethality with a plateau survival of ~50% at 12 weeks of age.

An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.

Tubular aggregate myopathy (TAM) is a heritable myopathy primarily characterized by progressive muscle weakness, elevated levels of creatine kinase (CK), hypocalcemia, exercise intolerance, and the presence of tubular aggregates (TAs). Here, we generated a knock-in mouse model based on a human gain-of-function mutation which results in a severe, early-onset form of TAM, by inducing a glycine-to-serine point mutation in the ORAI1 pore (Orai1 or GS mice). By 8 months of age, GS mice exhibited significant muscle weakness, exercise intolerance, elevated CK levels, hypocalcemia, and robust TA presence.

A Pilot Study Toward Development of the Digital Literacy, Usability, and Acceptability of Technology Instrument for Healthcare.

Electronic health record proficiency is critical for health professionals to deliver and document patient care. There is scarce research on this topic within undergraduate nursing student populations. The purpose of this study is to describe the psychometric evaluation of the Digital Literacy, Usability, and Acceptability of Technology Instrument for Healthcare.

Construction of the Digital Health Equity-Focused Implementation Research Conceptual Model - Bridging the Divide Between Equity-focused Digital Health and Implementation Research.

Digital health implementations and investments continue to expand. As the reliance on digital health increases, it is imperative to implement technologies with inclusive and accessible approaches. A conceptual model can be used to guide equity-focused digital health implementations to improve suitability and uptake in diverse populations.