The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders

OBJECTIVES: To test the usefulness of an extended panel of lymphocyte subsets in combination with Oliveira's diagnostic criteria for the identification of autoimmune lymphoproliferative syndrome (ALPS) in children referred to a paediatric rheumatology centre. METHODS: Patients referred from 2015 to 2018 to our rheumatology unit for an autoimmune or autoinflammatory condition were retrospectively analysed. Oliveira's required criteria [chronic lymphoproliferation and elevated double-negative T (DNT)] were applied as first screening. Flow cytometry study included double-negative CD4-CD8-TCR\u3b1\u3b2+ T lymphocytes (DNT), CD25+CD3+, HLA-DR+CD3+ T cells, B220+ T cells and CD27+ B cells. Data were analysed with a univariate logistic regression analysis, followed by a multivariate analysis. Sensitivity and specificity of the Oliveira's required criteria were calculated. RESULTS: A total of 264 patients were included in the study and classified as: (i) autoimmune diseases (n\u2009=\u200926); (ii) juvenile idiopathic arthritis (JIA) (35); (iii) monogenic systemic autoinflammatory disease (27); (iv) periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (100); (v) systemic undefined recurrent fever (45); (vi) undetermined-systemic autoinflammatory disease (14); or (vii) ALPS (17). Oliveira's required criteria displayed a sensitivity of 100% and specificity of 79%. When compared with other diseases the TCR\u3b1\u3b2+B220+ lymphocytes were significantly increased in ALPS patients. The multivariate analysis revealed five clinical/laboratory parameters positively associated to ALPS: splenomegaly, female gender, arthralgia, elevated DNT and TCR\u3b1\u3b2+B220+ lymphocytes. CONCLUSIONS: Oliveira's required criteria are useful for the early suspicion of ALPS. TCR\u3b1\u3b2+B220+ lymphocytes should be added in the diagnostic work-up of patients referred to the paediatric rheumatology unit for a suspected autoimmune or autoinflammatory condition, providing a relevant support in the early diagnosis of ALPS

Study of trunk asymmetry in normal children and adolescents

The scoliometer readings in both standing and sitting position of 2071 children and adolescents (1099 boys and 972 girls) aged from 5 to 18 years old were studied. The angle of trunk rotation (ATR) was measured, in order to quantify the existing trunk asymmetry. Children and adolescents were divided in two groups according to the severity of trunk asymmetry. In the first group asymmetry was 1 to 6 degrees and in the second group was 7 or more degrees. Radiographic and leg length inequality evaluation were also performed in a number of children. The mean frequency of symmetric (ATR = 0 degrees) boys and girls was 67.06% and 65.01% for the standing screening position and 76.5% and 75.1% for the sitting position, respectively. The mean difference of frequency of asymmetry (ATR > 0 degrees) at standing minus sitting forward bending position for boys and girls was 10.22% and 9.37%, respectively. The mean frequency of asymmetry of 7 or more degrees was 3.23% for boys and 3.92% for girls at the standing forward bending position and 1.62% and 2.21% at the sitting, respectively. Girls are found to express higher frequency of asymmetry than boys. Right trunk asymmetry was more common than left. The sitting position is the preferred screening position for examining the rib or loin hump during school screening as it demonstrates the best correlation with the spinal deformity exposing the real trunk asymmetry

[pain]Byte VR Storytelling & Classical Ballet

This initial stage paper focuses on the Virtual Reality (VR) experience of the [pain]Byte ballet. The live and VR experience debut October 1st 2017, as part of the Brighton digital festival. Specifically, the development of the VR environment to compliment live performance by using the same choreography to create an option capture element of the VR story telling experience. Reviewing Virtual & Alternative reality gaming & storytelling works and the use of VR for chronic pain management (Chen, Win). Does the VR experience compare to that of the live theatre for the audience? The data visualisations and VR environment will be continuations of the Network Simulator, [data]Storm 2015. We are visualising and comparing the pain pathway system to that of a social network. Linking pain signals to viral/negative messaging for some of the visuals. The main purpose of the pieces links to how “we" present ourselves online, these better or veiled versions of ourselves. For chronic pain sufferers, this can be daily activity in the real world. The paper concludes by identifying some future directions for the research project. The Ballet: [pain]Byte is a data driven dance classical ballet performance and VR (virtual reality) experience. [pain]Byte, is about chronic pain and biomedical engineering, in particular the use of implanted technology - neuromodulation (Al-Kaisey et al). Using data as a medium for storytelling, what it means to be in chronic pain. The live augmented theatre and VR experience research focuses on how an audience’s exposure and understanding are impacted by the difference mediums used for [pain]byte