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Margot Kelly-Hedrick,1 Kaitlin M Stouffer,2 Elizabeth Benskin,3 Suzy Wolffe,3 Norah Wilson,4 Margaret S Chisolm5 1Duke University School of Medicine, Durham, NC, USA; 2Johns Hopkins University School of Medicine, Baltimore, MD, USA; 3Department of Education, The Baltimore Museum of Art, Baltimore, MD, USA; 4Krieger School of Arts and Sciences, Johns Hopkins University, Baltimore, MD, USA; 5Department of Psychiatry and Behavioral Services, and of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USACorrespondence: Margot Kelly-Hedrick, Duke University School of Medicine, DUMC 2927, 40 Duke Medicine Circle, Durham, NC, 27710, USA, Email margot.kellyhedrick@duke.eduIntroduction: Health professions educators are increasingly recognizing the fundamental role the arts and humanities play in professional identity formation; however, few reports exist of programs designed specifically for pre-health professional students.Methods: We designed and delivered four, 2.5-h sessions for pre-health professions students at a local museum in partnership with museum educators. Participants were invited to respond to a follow-up survey asking about their perceived insights from and importance of the session. We used descriptive statistics and thematic content analysis for quantitative and qualitative data, respectively.Results: Ten of the participants responded to the survey (n=10/23, response rate=43%) and all supported the integration of such an experience in their pre-health curriculum. The qualitative analysis of responses to the open-ended item about any insights gained from participation in the program revealed three themes: cultivation of the health professional, personal growth, and awareness and appreciation of multiple perspectives.Discussion: Participants who responded to our survey drew meaningful connections to the relevance of these sessions to their development as future professionals.Keywords: pre-health, pre-medical education, arts and humanities, art museum

Background: Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with chronic CRPS-1 have a different genetic profile compared with those who do not have the condition., Methods: Exome sequencing was performed to seek altered non-synonymous SNP allele frequencies in a discovery cohort of well-characterised patients with chronic CRPS-1 (n = 34) compared with population databases. Identified SNP alleles were confirmed by Sanger sequencing and sought in a replication cohort (n = 50). Gene expression of peripheral blood macrophages was assessed., Results: In the discovery cohort, the rare allele frequencies of four non-synonymous SNPs were statistically increased. The replication cohort confirmed this finding. In a chronic pain cohort, these alleles were not overexpressed. In total, 25 out of 84 (29.8%) patients with CRPS-1 expressed a rare allele. The SNPs were rs41289586 in ANO10 , rs28360457 in P2RX7 , rs1126930 in PRKAG1 and rs80308281 in SLC12A9 . Males were more likely than females to have a rare SNP allele, 8 out of 14 (57.1%) vs 17 out of 70 (24.3%) (Fisher's p=0.023). ANO10 , P2RX7 , PRKAG1 and SLC12A9 were all expressed in macrophages from healthy human controls., Conclusion: A single SNP in each of the genes ANO10, P2RX7, PRKAG1 and SLC12A9 was associated with developing chronic CRPS-1, with more males than females expressing these rare alleles. Our work suggests the possibility that a permissive genetic background is an important factor in the development of CRPS-1., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Background: Professional identity formation is an important aspect of medical education that can be difficult to translate into formal curricula. The role of arts and humanities programs in fostering professional identity formation remains understudied. Analyzing learners' written reflections, we explore the relationship between an arts-based course and themes of professional identity formation., Materials and Methods: Two cohorts of learners participated in a 5-day online course featuring visual arts-based group activities. Both cohorts responded to a prompt with written reflections at the beginning and end of the course. Using a thematic analysis method, we qualitatively analyzed one set of reflections from each cohort., Results: Themes included the nature of the good life; fulfilling, purposeful work; entering the physician role; exploration of emotional experience; and personal growth. Reflections written at the end of the course engaged significantly with art - including literature, poetry, lyrics, and film. One student disclosed a mental illness in their reflection., Conclusions: Our qualitative analysis of reflections written during a visual arts-based course found several themes related to professional identity formation. Such arts-based courses can also enrich learners' reflections and provide a space for learners to be vulnerable., Practice Points: (five short bullets conveying the main points) Arts-based courses can support learners' professional identity formationReflection themes related to professional identity formation included entering the physician role, fulfilling clinical work, and personal growthAt the end of the course, learners' reflections included significant engagement with artReflective writing in small, arts-based learning communities can provide space for learners to be vulnerableThe Role of Arts-Based Curricula in Professional Identity Formation: Results of A Qualitative Analysis of Learner's Written Reflections.

Background: The arts and humanities have been integrated into medical student education worldwide. Integrated arts and humanities courses have been found to serve four primary functions: mastering skills, perspective taking, personal insight, and social advocacy. To what extent and how arts and humanities programs achieve these educational outcomes remain unclear., Objective: In this study, we aimed to explore how the arts and humanities may lead to perceived benefits in clinical skills development, professional identity formation, and self-care, and to evaluate the feasibility of delivering an arts and humanities-based course online., Methods: We developed and delivered a 1-week online arts and humanities course to second- through fourth-year medical students. A total of 18 students enrolled in the course across its 2 offerings in Spring 2020. The course was primarily visual arts based but also included activities based in other arts and humanities, such as literature, reflective writing, dance, film, music, philosophy, and religion. Using a mixed methods approach, daily polls assessed student engagement in and perceptions of the various activities, and a postcourse survey assessed student perceptions of the course as a whole., Results: At least 93% of poll respondents (14/15 to 17/18) across the 2 cohorts rated each type of activity as good or excellent. Qualitative analysis of student responses to the postcourse survey revealed themes concerning both the form (overall course design and online format) and the function of the course (skills development, appreciation of new perspectives, and personal inquiry)., Conclusions: Results suggested that the arts and humanities may support the development of clinically relevant skills and attitudes. A more unique finding was that integrative arts and humanities courses delivered online-including those that are primarily visual arts based-engage students and may yield personal and professional benefits., (©Kaitlin Stouffer, Heather J Kagan, Margot Kelly-Hedrick, Julia See, Elizabeth Benskin, Suzy Wolffe, Philip Yenawine, Margaret S Chisolm. Originally published in JMIR Medical Education (https://mededu.jmir.org), 22.09.2021.)

This article was migrated. The article was marked as recommended. With the onset of the coronavirus-19 (COVID-19) pandemic, we transformed an in-person art museum-based course for medical students into an online format. This brought new challenges but offered unexpected advantages. The course included daily close-looking of artworks using the Visual Thinking Strategies method, group arts-based activities, reflective writing, and independent creating assignments. The virtual format allowed us to incorporate important features that were unavailable in our in-person elective: multi-media activities, access to nearly unlimited international works of art, and personal reflection from one's private space. As instructors, the experience enlightened us on the value of online arts-based teaching., (Copyright: © 2021 Kelly-Hedrick M et al.)

By studying healthy women who do not request analgesia during their first delivery, we investigate genetic effects on labor pain. Such women have normal sensory and psychometric test results, except for significantly higher cuff pressure pain. We find an excess of heterozygotes carrying the rare allele of SNP rs140124801 in KCNG4. The rare variant K V 6.4-Met419 has a dominant-negative effect and cannot modulate the voltage dependence of K V 2.1 inactivation because it fails to traffic to the plasma membrane. In vivo, Kcng4 (K V 6.4) expression occurs in 40% of retrograde-labeled mouse uterine sensory neurons, all of which express K V 2.1, and over 90% express the nociceptor genes Trpv1 and Scn10a. In neurons overexpressing K V 6.4-Met419, the voltage dependence of inactivation for K V 2.1 is more depolarized compared with neurons overexpressing K V 6.4. Finally, K V 6.4-Met419-overexpressing neurons have a higher action potential threshold. We conclude that K V 6.4 can influence human labor pain by modulating the excitability of uterine nociceptors., Competing Interests: Declaration of Interests The authors declare no competing interests., (Copyright © 2020 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background: Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to discover if PEHO syndrome is a single gene disorder., Method: Children with PEHO and PEHO-like syndrome were recruited. Clinical, neurological and dysmorphic features were recorded; EEG reports and MRI scans were reviewed. Where possible, exome sequencing was carried out first to seek mutations in known early infantile developmental and epileptic encephalopathy (DEE) genes and then to use an agnostic approach to seek novel candidate genes. We sought intra-interfamilial phenotypic correlations and genotype-phenotype correlations when pathological mutations were identified., Results: Twenty-three children were recruited from a diverse ethnic background, 19 of which were suitable for inclusion. They were similar in many of the core and the supporting features of PEHO, but there was significant variation in MRI and ophthalmological findings, even between siblings with the same mutation. A pathogenic genetic variant was identified in 15 of the 19 children. One further girl's DNA failed analysis, but her two affected sisters shared confirmed variants. Pathogenic variants were identified in seven different genes., Conclusions: We found significant clinical and genetic heterogeneity. Given the intrafamily variation demonstrated, we question whether the diagnostic criteria for MRI and ophthalmic findings should be altered. We also question whether PEHO and PEHO-like syndrome represent differing points on a clinical spectrum of the DEE. We conclude that PEHO and PEHO-like syndrome are clinically and genetically diverse entities-and are phenotypic endpoints of many severe genetic encephalopathies., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Significant human diseases/phenotypes exist which require both an environmental trigger event and a genetic predisposition before the disease/phenotype emerges, e.g. Carbamazepine with the rare SNP allele of rs3909184 causing Stevens Johnson syndrome, and aminoglycosides with rs267606617 causing sensory neural deafness. The underlying genotypes are fully penetrant only when the correct environmental trigger(s) occur, otherwise they are silent and harmless. Such diseases/phenotypes will not appear to have a Mendelian inheritance pattern, unless the environmental trigger is very common (>50% per lifetime). The known causative genotypes are likely to be protein-altering SNPs with dominant/semi-dominant effect. We questioned whether other diseases and phenotypes could have a similar aetiology., Methods: We wrote the fSNPd program to analyse multiple exomes from a test cohort simultaneously with the purpose of identifying SNP alleles at a significantly different frequency to that of the general population. fSNPd was tested on trial cohorts, iteratively improved, and modelled for performance against an idealised association study under mutliple parameters. We also assessed the seqeuncing depath of all human exons to determine which were sufficiently well sequenced in an exome to be sued by fSNPd - by assessing forty exomes base by base., Results: We describe a simple methodology for the detection of SNPs capable of causing a phenotype triggered by an environmental event. This uses cohorts of relatively small size (30-100 individuals) with the phenotype being investigated, their exomes, and thence seeks SNP allele frequencies significantly different from expected to identify potentially clinically important, protein altering SNP alleles. The strengths and weaknesses of this approach for discovering significant genetic causes of human disease are comparable to Mendelian disease mutation detection and Association Studies., Conclusions: The fSNPd methodology is another approach, and has potentially significant advantage over Association studies in needing far fewer individuals, to detect genes involved in the pathogenesis of a diseases/phenotypes. Furthermore, the SNP alleles identified alter amino acids, potentially making it easier to devise functional assays of protein function to determine pathogenicity.

Cyber-Physical Systems (CPS) are systems that integrate physical, computational, and networking components. These systems have an impact on the physical components; it is critical to safeguard them against a range of attacks. In this paper, it is argued that an effective approach to achieve this goal is to systematically identify the potential threats at the design phase of building such systems, commonly achieved via threat modeling. In this context, a tool to perform systematic analysis of threat modeling for CPS is proposed. A real-world wireless railway temperature monitoring system is used as a case study to validate the proposed approach. The threats identified in the system are subsequently mitigated using the National Institute of Standards and Technology (NIST) SP 800-82 guidelines.

Consolidation theory assumes that as time passes, some memories are strengthened and become resistant to change while other memories are weakened and forgotten. Recent demonstrations that implicit, or procedural, memories are retrieved more efficiently after learning and retention are consistent with the idea that these particular memory traces have strengthened with time, and therefore may be accessed faster. However, it is not clear whether the process of explicit memory retrieval also becomes more efficient with time. In two experiments, we explored 1) how much time is required for retrieval of separate explicit and implicit components of hippocampal-dependent visuomotor associative memories after variable retention intervals, and 2) how the explicit and implicit processing times change when the associations are rehearsed after initial retrieval. We found that after learning and retention, explicit and implicit processing times diverged: 1) the time taken to retrieve successfully the explicit component increased relative to a pre-retention baseline but, after spaced rehearsal, decreased, although not to a level significantly below that obtained at the end of learning, and 2) the implicit, or procedural, component processing times continued to gradually decrease after retention, and with continued rehearsal, reached a level significantly below the pre-retention baseline. We conclude that the observed divergence in post-retention reaction times suggests that explicit and implicit memory systems may reorganize differently after learning, and that as a consequence, different amounts of processing time may be required for retrieval of these different memory components.