Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades. gPrDs are caused by mutations in the prion protein gene (PRNP), and have been historically classified based on their clinicopathological features as genetic Jakob-Creutzfeldt disease (gJCD), Gerstmann-Sträussler-Scheinker (GSS), or Fatal Familial Insomnia (FFI). Mutations in PRNP can be missense, nonsense, and octapeptide repeat insertions or a deletion, and present with diverse clinical features, sensitivities of ancillary testing, and neuropathological findings. We present the UCSF gPrD cohort, including 129 symptomatic patients referred to and/or seen at UCSF between 2001 and 2016, and compare the clinical features of the gPrDs from 22 mutations identified in our cohort with data from the literature, as well as perform a literature review on most other mutations not represented in our cohort. E200K is the most common mutation worldwide, is associated with gJCD, and was the most common in the UCSF cohort. Among the GSS-associated mutations, P102L is the most commonly reported and was also the most common at UCSF. We also had several octapeptide repeat insertions (OPRI), a rare nonsense mutation (Q160X), and three novel mutations (K194E, E200G, and A224V) in our UCSF cohort. © 2016 Wiley Periodicals, Inc.

Global Host Partner Perspectives: Utilizing a Conceptual Model to Strengthen Collaboration with Host Partners for International Nursing Student Placements.

OBJECTIVES: Collaboration in international nursing student placements requires equitable partnerships between global partners to address areas of shared importance, such as equity and justice in health promotion. This qualitative study was the first to use the Leffers and Mitchell Conceptual Model for Partnership and Sustainability in Global Health to elicit global host partners' perspectives regarding effective collaboration for Canadian community health nursing placements in the Dominican Republic. DESIGN AND SAMPLE: Focus group and semi-structured interview methodology was conducted with Dominican Republic (Dominican and Haitian) host partners (n = 23) about the engagement processes and host partner factors for effective partnership. RESULTS: Dominican (83%) and Haitian (17%) participants, comprised similar numbers of male and female adults aged 18-60 years (mean age = 36 years), represented the full range of the Dominican Republic host partners (e.g., teachers, health professionals). Interpretive analysis revealed themes that included (1) the unique role of the cultural broker; (2) relational collaboration in a collective society; (3) reciprocal approaches that honor local expertise; and (4) contextual socioeconomic and cultural factors that influence partnerships. CONCLUSIONS: Future research and implications at the individual, community, and policy levels are discussed.