Brett Schrewe

Novel 3q27.2‐qter deletion in a patient with Diamond–Blackfan anemia and immunodeficiency: Case report and review of literature

3q27.2‐qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond–Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2‐qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions. In addition, we evaluated our patient for the immunodeficiency disorder, RIDDLE syndrome, due to recessive mutations in the RNF168 gene on 3q29. A PubMed search for case reports of 3q27.2‐qter overlapping deletions was performed. To determine if RPL35A was in the deletion region, the chromosomal regions reported were mapped to genomic regions using the UCSC Genome Browser. We identified 85 overlapping deletions, of which six included the RPL35A gene and all should be had DBA. Interestingly, none of the reported cases had immunodeficiency. To evaluate RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties), we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency. These results were normal, indicating that the immunodeficiency is unlikely to result from a RNF168 deficiency. We show that RPL35A haploinsufficiency is a cause of DBA and we report a novel case with 3q27.2‐qter deletion and immunodeficiency. The etiology for the immunodeficiency remains unsolved and could be caused by an unknown gene effect or consequent to the DBA phenotype.

Navigating the unchartable: paths to promotion and tenure in health professions education

Varpio et al. lay out challenges that new faculty face in negotiating different meanings of scholarly contribution, teaching and service in a quest for promotion and tenure within their universities [1]. Promotion and tenure processes are indeed a labyrinth for young faculty. The halls are dimly lit, the thread to follow is tenuous and one may have the sense of foreboding that a wrong turn or miscalculated step may put one’s career advancement squarely in the arms of the Minotaur. Searching desperately for a map, young faculty find that there are none. Rather, pathways through this maze shift and change, with review committees moving and adjusting the signposts as times and circumstances demand. Within even a single university community, each unit participates differently in scholarly activities, and similar words in broad university policies come to powerfully connote locally different meanings in individual departments. How can up-and-coming faculty successfully navigate their way? Navigating this future means first developing a deeper sense of our heritage. Universities first formed in Europe as self-regulating communities of scholars and learners that determined the qualifications of their members. Today, that spirit lives on in the form of communities of tenured peers, who rely upon specific processes and practices in the pur-

When I say... culture.

‘Culture’ has been described as ‘one of the. . . most complicated words in the English language’. Chosen by Merriam-Webster as their ‘word of the year’ for 2014, it may also be a confusing concept. Whether complicated, confusing or both, ‘culture’ is increasingly used within medical education to denote differences or commonalities between health professions. Often articulated as ‘the culture of. . .’, one need only watch heads nod in agreement to suggest that ‘culture’ has now colonised our discourse without a second thought. However, as its use proliferates, a second thought may be necessary because, instead of realising its potential as a powerful analytical framework, ‘culture’ is in danger of becoming a vague referent signifying everything and nothing simultaneously.

The Cross-Canada Quintet presents variations on music: movements in the keys of H, P and E.

Whether it is rock playing in the background during a surgery, cool jazz that wafts from our office computer speakers as we write up our clinical notes, or the soaring of a symphony on the radio that inspires that perfect flourish to an article, music is woven throughout much of our clinical and academic lives. For the five of us, however, music alternates between the background and foreground in our lives as health professions educators. Music balances the working day, illuminates our research, and reconciles the utility of our training with the originality of our practice. We invite you to discover the interplays, dissonances and harmonies inspired by and reflected in this leitmotif. Pull up a chair, sit back, put on one of your own favourite pieces and explore these ideas as we riff and rhapsodise on variations on this theme.

Embracing standardisation and contextualisation in medical education

The tensions that emerge between the universal and the local in a global world require continuous negotiation. However, in medical education, standardization and contextual diversity tend to operate as separate philosophies, with little attention to the interplay between them.

The Big D(eal): professional identity through discursive constructions of ‘patient’

Professional identity formation has become a key focus for medical education. Who one becomes as a physician is contingent upon learning to conceptualise who the other is as a patient, yet, at a time when influential ideologies such as patient‐centred care have become espoused values, there has been little empirical investigation into assumptions of ‘patient’ that trainees take up as they progress through their training.

On aphorisms and the maintenance of biomedicine.

What I know for certain is that rarely are you dispensable as a resident or attending doctor I just hope today’s students get it. Although medical school has become largely optional, real life is not. Medical students have chosen a profession that prides itself on the long, selfless hours its practitioners endure. I have heard that students nowadays seem to expect better lifestyles and more manageable hours; will they know what their futures hold if they spend the first 2 years in bunny slippers? We may be doing them a disservice by making the early medical school years so flexible, user-friendly and socially isolating. As I’ve been known to tell my staff and residents, 99% of life is showing up. In medicine, which is a busy, stressful and incredibly rewarding career, that is the least you can do.