Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5′‐untranslated region of NOTCH2NLC. The clinical and genetic characterization of NIID outside of East Asia remains unknown. We identified twelve patients who underwent genetic testing using long‐read sequencing or repeat primed polymerase chain reaction. All were positive for a GGC repeat expansion; the median repeat length was 107 (range 92‐138). Ten were Chinese and two of Malay ethnicity. Age at onset ranged from 50 to 69 years. Eight (66.7%) patients had dementia, while four (33.3%) patients were oligosymptomatic, without typical NIID symptoms of dementia, Parkinsonism, or muscle weakness. GGA interruptions within the GGC expansion were present in four patients; the number of GGA interruptions was highest (6.71%) in the patient with the earliest age at onset (50 years). Median plasma neurofilament light level was 47.3 pg/mL in seven patients (range 26‐380 pg/mL). The highest level (380 pg/mL) was found in one patient who experienced an encephalitic episode. Overall, we describe a cohort of genetically confirmed NIID patients from Southeast Asia and provide further information that the presence of GGA interruptions within GGC repeat expansions may serve as a potential genetic modifier in NIID.
Introduction: Magnetic Resonance (MR) safety is critically important in any Radiology Department, and MR-related accidents are preventable. Serious games provide opportunities for learners to build MR safety awareness through play in an immersive learning environment by using simulated scenarios such as screening virtual patients and managing an MR-related accident.
Methods: We developed a serious game, in partnership with a game developer, introducing MR safety concepts to learners as they navigate through a virtual 3D Radiology department. Drag-and-drop minigames are incorporated to aid the learner to identify hazards in and around the MR environment. Virtual patients are placed in waiting areas to provide realism, and learners are tasked to screen them as part of MR Safety Screening checks. A simulation of an MR-related accident prompts learners to make decisions or take actions to ensure safety and mitigate further risks during the accident. The learner also role-plays as a Risk Officer to identify the multiple key incidents that led to the accident. These formative assessments, with instantaneous feedback, assesses the learners' knowledge of MR safety.
Results: Pilot feedback of this serious game revealed that it is realistic, engaging and relatable. The instructions within the game were clear and aided learning. The game has also been scaled up and customised for the radiology departments of 3 other healthcare institutions.
Conclusion: Serious games provide a training solution to raise MR safety awareness by simulating real-life scenarios in an immersive learning environment. It supplements face-to-face training and is scalable to other healthcare institutions.
Despite decades of research on the impact of interprofessional collaboration (IPC), we still lack definitive proof that team-based care can lead to a tangible effect on healthcare outcomes. Without return on investment (ROI) evidence, healthcare leaders cannot justifiably throw their weight behind IPC, and the institutional push for healthcare manpower reforms crucial for facilitating IPC will remain variable and fragmentary. The lack of proof for the ROI of IPC is likely due to a lack of a unifying conceptual framework and the over-reliance on the single-method study design. To address the gaps, this paper describes a protocol which uses as a framework the Quadruple Aim which examines the ROI of IPC using four dimensions: patient outcomes, patient experience, provider well-being, and cost of care. A multimethod approach is proposed whereby patient outcomes are measured using quantitative methods, and patient experience and provider well-being are assessed using qualitative methods. Healthcare costs will be calculated using the time-driven activity-based costing methodology. The study is set in a Singapore-based national and regional center that takes care of patients with neurological issues.
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