Painful Diplopia as an Initial Presentation of VEXAS Syndrome.

This is a case report describing an unusual presentation of acute painful diplopia that led to the diagnosis of VEXAS syndrome. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset monogenic auto-inflammatory disease due to somatic UBA1 gene mutation in haematopoietic progenitor cells. Our patient was a 67-year-old diabetic male who presented with painful eye movements associated with diplopia, left periorbital pain and swelling. Imaging revealed an inflammatory process involving multiple intra- and extra-orbital structures. The patient improved initially with a short course of intravenous steroids. However, two months later he re-presented with right facial swelling. Bone marrow biopsy demonstrated UBA1 gene mutation supporting the diagnosis of VEXAS syndrome. This case highlights a unique ocular presentation of VEXAS.

Psychological/social factors associated with transfer readiness in young people with juvenile idiopathic arthritis.

The aim of this study is to investigate the relationships between psychological/social factors and transfer readiness from paediatric to adult rheumatology services in pre- and post-transfer young people (YP) with juvenile idiopathic arthritis (JIA). Participants completed questionnaires measuring a broad range of psychological/social factors (generalised anxiety, pain-specific anxiety, pain-related thoughts, depression, prosocial behaviours, problem behaviours, arthritis-related quality of life (QoL), social support, family functioning) and transfer readiness (transfer-related knowledge and skills, health-related self-efficacy). JIA disease activity was measured on the same day as the questionnaires. This study received all relevant ethical and regulatory approvals, and informed consent was received from or on behalf of all participants. In total, 40 pre-transfer YP with JIA aged 10-16 years (M = 13.54 years, 26 females) and their parents/guardians participated at Sheffield Children's NHS Foundation Trust, and 40 post-transfer YP with JIA aged 16-24 years (M = 20.16 years, 26 females) participated at Sheffield Teaching Hospitals NHS Foundation Trust. For both pre- and post-transfer YP, greater transfer readiness was associated with lower generalised anxiety levels, lower pain-specific anxiety levels, fewer pain-related thoughts, lower depression levels, fewer problem behaviours, better arthritis-related QoL, better social support, and better family functioning. Greater transfer readiness was also associated with less JIA disease activity for post-transfer YP only. A broad range of psychological/social factors were associated with transfer readiness in pre- and post-transfer YP with JIA. This highlights the importance of assessing and addressing YP's psychological/social well-being during their transition to adult services. Key Points • A wide range of psychological and social factors may be associated with how ready young people with juvenile idiopathic arthritis feel to move from paediatric to adult rheumatology services. • Transition outcomes may be improved by comprehensively assessing and addressing young people's psychological and social well-being.

Looking for a better future: identity construction in socio-economically deprived 16-year olds considering a career in medicine.

The medical profession has traditionally been dominated by middle-class white males in the UK, but it is a political priority to widen access to all socio-economic and ethnic groups. This paper describes an empirical study based on biographical life narrative interviews with 45 16-year olds from inner London who were considering applying to medical school, drawn mainly from the most socio-economically deprived 25% of the population. Most of them were immigrants or the children of immigrants, and all had been selected by their teachers as highly able and motivated. Students were asked to "tell the story of your life so far". Interviews were tape recorded, transcribed and analysed thematically. Five influences on the development of academic identity and medical ambition were identified: (1) the private sphere (Bourdieu's 'family habitus'), especially a family meta-narrative of immigration to secure a better future and of education as the vehicle to regaining a high social position previously held in the family of origin; (2) the school (Bourdieu's 'institutional habitus'), and especially the input of particular teachers who inspired and supported the student; (3) friends and peers, many of whom the student had chosen strategically because of shared aspirations to academic success; (4) psychological resources such as maturity, determination and resilience; and (5) past experiences (especially meeting the challenge of immigration, changing school, or dealing with illness or death in a relative), which had proved formative and strengthening to the individual's developing ego. Despite their talents and ambitions, many students had important gaps in their knowledge of the application process and lacked sophistication in the 'admissions game'. The findings are discussed in relation to contemporary educational and social theories.

DR WHO: a workshop for house officer preparation.

BACKGROUND: Newly qualified doctors should be competent in advanced life support (ALS) and critical care. The Resuscitation Council has published a course about ALS for undergraduate medical students (the intermediate life support (ILS) course). However, there is no undergraduate-level course on assessing and treating critically ill patients, despite the fact that postgraduate courses on this topic are extremely popular. We have developed a new course called Direct Response Workshop for House Officer Preparation (DR WHO), which teaches both ALS and critical care at an undergraduate level. METHODS: We taught the Resuscitation Council ILS course to our 2003-4 cohort of final year medical students (n = 350), and the new course (DR WHO) to our 2004-5 cohort (n = 338). Students filled in feedback forms immediately after the courses, and a subset repeated the feedback forms 4 months after they had started work as house officers. Course evaluation: Student and house officer feedback was positive. The DR WHO cohort was more confident in caring for critically ill patients (18/26 (69%) were confident after ILS, and 40/45 (89%) were confident after DR WHO (chi2 = 4.3; df = 1; p = 0.06)). Both cohorts were competent in ALS, each with a mean score of 18.6/20 in a finals level practical examination on this topic. CONCLUSIONS: The DR WHO course is popular with the students and practical to run. The course needs to be re-evaluated to determine the long-term competency of graduates.

Serum IgG2 and tissue IgG2 plasma cell elevation in orbital IgG4-related disease (IgG4-RD): Potential use in IgG4-RD assessment.

AIMS: To determine the role of serum and tissue IgG2 in orbital biopsies with the histological features of IgG4-related disease (IgG4-RD) in comparison with non-IgG4-related orbital inflammatory disorders (OID), including autoimmune disorders. METHODS: This is an international (Sheffield, UK, and Singapore) collaborative, retrospective case review of 69 patients (38 from Singapore National Eye Centre and 31 from Royal Hallamshire Hospital, Sheffield) with orbital inflammatory biopsies between 2002 and 2016. Clinical information and histology were reviewed and cases were classified into three groups: Group 1: IgG4-RD orbital inflammation (n=43); Group 2: idiopathic OID (n=12) and Group 3: autoimmune OID (n=14). Serum IgG1, IgG2, IgG3 and IgG4 levels were collated where available and immunohistochemistry (IHC) for tissue IgG2 plasma cells was performed. RESULTS: Dual IHC showed IgG2 plasma cells as a distinct population from IgG4 plasma cells. Significant (twofold) serum IgG2 elevation was noted among IgG4-RD (group 1), idiopathic (group 2) and autoimmune OID (group 3). Similarly, significant elevation of tissue IgG2 plasma cells was also seen among IgG4-RD (group 1), idiopathic and autoimmune OID (groups 2 and 3). CONCLUSIONS: Significant elevations of serum IgG2 and tissue IgG2 plasma cells are present in orbital IgG4-RD in comparison with non-IgG4 orbital inflammation (idiopathic and autoimmune OID), suggesting that IgG2 may play a role in IgG4-RD. A serum IgG2 cut-off >5.3 g/L was found to be 80% sensitive and 91.7% specific for orbital IgG4-RD, with an accuracy of 0.90. Tissue IgG2 and IgG4 subclass reporting may provide additional insight regarding the 'IgG4-RD' pathogenesis.

"We were treated like adults"--development of a pre-medicine summer school for 16 year olds from deprived socioeconomic backgrounds: action research study.

OBJECTIVE: To develop a one week widening access summer school for 16 year old pupils from non-traditional backgrounds who are considering applying to medical school, and to identify its short term impact and key success factors. DESIGN: Action research with partnership schools in deprived inner city areas in five overlapping phases: schools liaison, recruitment of pupils and assessment of needs, programme design, programme delivery, and evaluation. The design phase incorporated findings from one to one interviews with every pupil, and workshops and focus groups for pupils, parents, teachers, medical student assistants, NHS staff, and other stakeholders. An in-depth process evaluation of the summer school was undertaken from the perspective of multiple stakeholders using questionnaires, interviews, focus groups, and observation. PARTICIPANTS: 40 pupils aged 16 years from socioeconomically deprived and under-represented ethnic minority groups. RESULTS: The summer school was popular with pupils, parents, teachers, and staff. It substantially raised pupils' confidence and motivation to apply to medical school. Critical success factors were identified as an atmosphere of "respect"; a focus on hands-on work in small groups; the input of medical students as role models; and vision and leadership from senior staff. A particularly popular and effective aspect of the course was a grand round held on the last day, in which pupils gave group presentations of real cases. CONCLUSION: An action research format allowed us to draw the different stakeholders into a collaborative endeavour characterised by enthusiasm, interpersonal support, and mutual respect. The input from pupils to the programme design ensured high engagement and low dropout rates. Hands-on activities in small groups and social drama of preparing and giving a grand round presentation were particularly important.