A Structured Framework and Resources to Use to Get Your Medical Education Work Published.

IntroductionMedical educators often have great ideas for medical education scholarship but have difficulty converting their educational abstract or project into a published manuscript.MethodsDuring this workshop, participants addressed common challenges in developing an educational manuscript. In small-group case scenarios, participants discovered the importance of the "So what?" in making the case for their project. Incorporating conceptual frameworks, participants chose appropriate outcome metrics, discussed how to frame the discussion section, and ensured appropriate journal fit. After each small-group exercise, large-group discussions allowed the small groups to report back so that facilitators could highlight and reinforce key learning points. At the conclusion of the workshop, participants left with a checklist for creating an educational manuscript and an additional resources document to assist them in avoiding common pitfalls when turning their educational abstract/project into a publishable manuscript.ResultsThis workshop was presented in 2016 and 2017. Presenter evaluations were completed by 33 participants; 11 completed conference evaluations. The mean overall rating on presenter evaluations was 4.55 out of 5, while the conference evaluations mean was 3.73 out of 4. Comments provided on both evaluation tools highlighted the perceived effectiveness of the delivery and content. More than 50% of respondents stated that they planned to incorporate the use of conceptual frameworks in future work.DiscussionThis workshop helped participants address common challenges by providing opportunities for hands-on practice as well as tips and resources for use when submitting a medical education manuscript for publication

Towards Urban Geopolitics of Encounter: Spatial Mixing in Contested Jerusalem

The extent to which 'geographies of encounter' facilitate tolerance of diversity and difference has long been a source of debate in urban studies and human geography scholarship. However, to date this contestation has focused primarily on hyper-diverse cities in the global north-west. Adapting this debate to the volatile conditions of the nationally-contested city, this paper explores intergroup encounters between Israelis and Palestinians in Jerusalem. The paper suggests that in the context of hyper-polarisation of the nationally-contested urban space, the study of encounter should focus on macro-scale structural forces. In Jerusalem, we stress the role of ethnonationality and neoliberalism as key producers of its asymmetric and volatile yet highly resilient geography of intergroup encounters. In broader sense, as many cities worldwide experience a resurgence of ethnonationalism, illuminating the structural production of encounter may demarcate a broader function for reading contemporary urban geopolitics

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

Contains fulltext : 215007.pdf (publisher's version ) (Closed access

Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency.

Peroxisomal biogenesis disorders (PBDs) are a heterogeneous group of genetic diseases. Multiple peroxisomal pathways are impaired, and very long chain fatty acids (VLCFA) are the first line biomarkers for the diagnosis. The clinical presentation of PBDs may range from severe, lethal multisystemic disorders to milder, late-onset disease. The vast majority of PBDs belong to Zellweger Spectrum Disordes (ZSDs) and represents a continuum of overlapping clinical symptoms, with Zellweger syndrome being the most severe and Heimler syndrome the less severe disease. Mild clinical conditions frequently present normal or slight biochemical alterations, making the diagnosis of these patients challenging. In the present study we used a combined WES and RNA-seq strategy to diagnose a patient presenting with retinal dystrophy as the main clinical symptom. Results showed the patient was compound heterozygous for mutations in PEX1. VLCFA were normal, but retrospective analysis of lysosphosphatidylcholines (LPC) containing C22:0-C26:0 species was altered. This simple test could avoid the diagnostic odyssey of patients with mild phenotype, such as the individual described here, who was diagnosed very late in adult life. We provide functional data in cell line models that may explain the mild phenotype of the patient by demonstrating the hypomorphic nature of a deep intronic variant altering PEX1 mRNA processing