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Objectives: To determine the influence of HLA-B27 positivity on risk of developing chronic nonbacterial osteomyelitis (CNO). Methods: HLA-B*27 genotype was assessed in 3 European CNO populations and compared with local control populations (572 cases, 33,256 controls). Regional or whole-body MRI was performed at diagnosis and follow-up in all cases which reduces the risk of disease misclassification. Genotyping was performed using either next generation DNA sequencing or PCR based molecular typing. Statistical analysis used Fisher's exact test with Bonferroni correction and a fixed effects model for meta-analysis of odds ratios. Results: HLA-B*27 frequency was higher in all 3 populations compared with local controls (combined odds ratio (OR) = 2.2, p-value = 3 × 10–11). This association was much stronger in male compared with female cases (OR = 1.99, corrected p-value = 0.015). However, the HLA-B*27 status was not statistically significantly associated with co-occurrence of psoriasis, arthritis or inflammatory bowel disease. Conclusion: Carriage of HLA-B*27 is associated with greater risk of developing CNO, particularly in male cases. [ABSTRACT FROM AUTHOR]

Background: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory disease affecting bone with considerable phenotypic heterogeneity and variable association with other autoinflammatory conditions. Disease pathogenesis is incompletely understood, and treatment protocols vary between physicians with no clinical treatment guidelines available prior to 2017. Although CNO was previously considered benign, it is now clear that long-term sequelae do occur. The aim of this study is to provide a detailed phenotypic description of children and adolescents with CNO who attended tertiary paediatric rheumatology services in Ireland between September 2017 and September 2019, their disease course, treatment and outcomes. Methods: This study involved retrospective review of clinical notes, laboratory, radiology and histology results of Irish children and adolescents with CNO who are currently attending tertiary paediatric rheumatology services. The Bristol diagnostic criteria were applied retrospectively; only patients who met these criteria were included. Criteria for remission and partial response were based on the Childhood Arthritis and Rheumatology Research Alliance (CARRA) criteria for treatment failure. Results: Forty-four children and adolescents were recruited. Demographics in terms of age of onset, gender and number of sites were similar to those previously reported. Overall, 18/44 (40.9%) had extraosseous manifestations associated with CNO; 12/44 (27.2%) had cutaneous involvement. All patients received a regular nonsteroidal anti-inflammatory drug (NSAID) after diagnosis with 27/44 (61.4%) requiring at least 1 second-line medication. Second-line agents used in this cohort were bisphosphonates, methotrexate and TNF-blockers. No patients received systemic corticosteroids. Conclusion: This national cohort showed a high prevalence of extraosseous involvement and a low response rate to NSAID treatment. This may reflect a more inflammatory phenotype and highlights the need to define different subtypes of CNO. [ABSTRACT FROM AUTHOR]

This study explored the reflective writing (RW) of senior medical students across a co-ordinated reflection education programme in General Practice, Paediatrics and Psychiatry clerkships during their transition to clinical clerkships. The study compared RW themes from within and across three clerkships in order to understand the influence clerkships had on experiential learning and developing professional identity. All medical students in their penultimate year were invited to participate in the study. 135 reflection assignments were analysed. A qualitative thematic analysis of students' RW was performed. An inductive approach was used and data saturation was achieved. Clerkship specific themes were the intimacy of the experience in General Practice, the powerlessness students felt and the challenge of delivering family centred care in Paediatrics and the sense of perceived risk in Psychiatry. Common themes across the three clerkships were of emotional struggles in developing a professional identity. There is an educational need for developmental space for students during General Practice, greater focus on preparing students for relationship building during Paediatrics and addressing stigma and personal safety issues in students during the Psychiatry clerkships. Across clerkships there is a need for better use of evidence based pedagogies to support emotional development. [ABSTRACT FROM AUTHOR]

We report on the case of a 2-year-old girl recently diagnosed with Methylenetetrahydrofolate reductase (MTHFR) deficiency who originally presented in the neonatal period with a distinctive rash. At 11 weeks of age she developed seizures, she had acquired microcephaly and developmental delay. The rash deteriorated dramatically following commencement of phenobarbitone; both rash and seizures abated following empiric introduction of pyridoxine and folinic acid as treatment of possible vitamin responsive seizures. We postulate that phenobarbitone in combination with MTHFR deficiency may have caused her rash to deteriorate and subsequent folinic acid was helpful in treating the rash and preventing further acute neurological decline as commonly associated with this condition. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]