A genome wide association study of chronic spontaneous urticaria risk and heterogeneity.

BACKGROUND: Chronic spontaneous urticaria (CSU) is a dermatologic condition that is characterized by spontaneous, pruritic hives and/or angioedema that persist for six weeks or longer with no identifiable trigger. Anti-histamines and second line therapies such as omalizumab are effective for some CSU patients, but others remain symptomatic with significant impact on quality of life. This variable response to treatment and autoantibodies levels across patients highlight clinically heterogeneous subgroups. OBJECTIVE: We aimed to highlight pathways involved in CSU by investigating the genetics of CSU risk and subgroups. METHODS: We performed a genome-wide association study (GWAS) of 679 CSU patients and 4,446 controls and a GWAS of Chronic Urticaria (CU) index, which measures IgG autoantibodies levels, by comparing 447 CU-index low to 183 CU-index high patients. We also tested whether polygenic scores for autoimmune-related disorders associate with CSU risk and CU-index. RESULTS: We identified two loci significantly associated with disease risk. The strongest association maps to position 56 of HLA-DQA1 (P=1.69x10-9), where the arginine residue was associated with increased risk (OR=1.64). The second association signal colocalizes with expression-quantitative trait loci for ITPKB in whole blood (probabilitycolocalization=0.997). The arginine residue at position 56 of HLA-DQA1 was also associated with increased risk of CU-index high (P=6.15x10-5, OR=1.86), while the ITKPB association was not (P=0.64). Polygenic scores for three autoimmune-related disorders (hypothyroidism, type-1 diabetes, and vitiligo) are associated with CSU risk and CU-index (P<2.34x10-3, OR>1.72). CONCLUSION: This GWAS of CSU identifies two genome-wide significant loci and highlights the shared genetics between CU-index and autoimmune disorders.

Live streaming to sustain clinical learning.

BACKGROUND: The COVID-19 pandemic has necessitated the need to develop teaching innovations that provide safe, authentic clinical encounters which facilitate experiential learning. In tandem with the dissemination of teleconsultation and online teaching, this pilot study describes, evaluates and justifies a multi-camera live-streaming teaching session to medical students from the clinical environment. APPROACH: Multiple audio and video inputs capturing an outpatient clinic setting were routed through Open Broadcast Software (OBS) to create a customised feed streamed to remote learners through a videoconferencing platform. Sessions were conducted between September 2020 and March 2021. Twelve students sequentially interacted with a patient who held an iPad. Higher quality Go-Pro cameras captured the scene, allowing students to view the consultation from the patient and doctor's perspective. A consultant then conducted a 'gold standard' patient consultation observed by students. A faculty member remotely facilitated the session, providing pre-clinic teaching and debriefing. The equipment required with costing for a standard and low-cost version is described, as well as a set-up schematic and overview of ideal conditions and barriers encountered during trials. EVALUATION: All students completed a post-participation questionnaire, rating the overall quality of the sessions as 9.7/10. The quality of online facilitation, utility of observing peers' and consultant interaction with the patient, opportunity for peer-to-peer learning and availability of multiple camera angles were particularly valued by students. IMPLICATIONS: This innovation permits an authentic clinical interaction to be experienced by multiple students remotely, promoting equitable access to high-quality teaching, while maintaining the safety of students and patients.

Fostering intrinsic motivation in remote undergraduate histopathology education.

AIMS: The levels of abstraction, vast vocabulary and high cognitive load present significant challenges in undergraduate histopathology education. Self-determination theory describes three psychological needs which promote intrinsic motivation. This paper describes, evaluates and justifies a remotely conducted, post-COVID-19 histopathology placement designed to foster intrinsic motivation. METHODS: 90 fourth-year medical students took part in combined synchronous and asynchronous remote placements integrating virtual microscopy into complete patient narratives through Google Classroom, culminating in remote, simulated multidisciplinary team meeting sessions allowing participants to vote on 'red flag' signs and symptoms, investigations, histological diagnoses, staging and management of simulated virtual patients. The placement was designed to foster autonomy, competence and relatedness, generating authenticity, transdisciplinary integration and clinical relevance. A postpositivistic evaluation was undertaken with a validated preplacement and postplacement questionnaire capturing quantitative and qualitative data. RESULTS: There was a significant (p<0.001) improvement in interest, confidence and competence in histopathology. Clinical integration and relevance, access to interactive resources and collaborative learning promoted engagement and sustainability post-COVID-19. Barriers to online engagement included participant lack of confidence and self-awareness in front of peers. CONCLUSIONS: Fostering autonomy, competence and relatedness in post-COVID-19, remote educational designs can promote intrinsic motivation and authentic educational experiences. Ensuring transdisciplinary clinical integration, the appropriate use of novel technology and a focus on patient narratives can underpin the relevance of undergraduate histopathology education. The presentation of normal and diseased tissue in this way can serve as an important mode for the acquisition and application of clinically relevant knowledge expected of graduates.