Supporting positive patient experiences for rare disease care during disruptive times: findings from a multicentre study

Introduction: We describe the perceptions and experiences of health care services during the COVID-19 pandemic of those newly diagnosed with a rare, chronic inflammatory eye disorder. Methods: We undertook a cross-sectional study nested within a longitudinal multi-centre inception cohort study. Participants were families and young people (aged under 18 years) newly diagnosed with childhood uveitis. Using a validated tool, the Health Foundation COVID-19 Survey, we captured qualitative and quantitative data. Quantitative data were analysed using descriptive summary statistics. Qualitative, free text responses were analysed using content and thematic analysis. Results: Responses received from 60 families between 1st September 2020 and 30th March 2022 were analysed. Despite two in five reporting challenges in accessing medication, the majority felt comfortable accessing healthcare services (8%, 95% CI 3 - 18%, of participants expressed discomfort, versus 28%, 95% CI 26 – 28% of general population). Thematic analysis identified five themes: the value of protected spaces to safely access care; the positive role of digital health tools the experience of immature telemedicine; disintegration of care; and dealing with uncertainty. Discussion: Our findings suggest that families of children with a rare chronic condition had greater confidence in accessing healthcare during the pandemic than the general population. Nevertheless, to ensure more robust health services for such populations in future times of disruption, developments in telemedicine should be directly informed by the experiences of those with rare disease. The development of new healthcare processes which ensure the whole healthcare team has adequate information to support families should be prioritised

Supporting positive patient experiences for rare disease care during disruptive times: findings from a national study

Aim: We describe the perceptions and experiences of healthcare services during the pandemic of those newly diagnosed with a rare, chronic eye disorder. Methods: A cross-sectional mixed-methods study nested within a multi-center inception cohort study. Participants were UK families and adolescents newly affected by childhood uveitis. Using a validated tool (Health Foundation COVID-19 Survey), we captured quantitative (analyzed using descriptive statistics) and qualitative (analyzed using content and thematic analysis) data. Results: Responses received from 60 families (September 2020–March 2022), of whom 92% felt comfortable accessing healthcare services, despite 40% reporting challenges in accessing medication. Thematic analysis identified five themes: the value of protected spaces; the positive role of digital health tools, negative experience of immature telemedicine, disintegration of care; and dealing with uncertainty. Conclusion: Our findings will support ongoing developments in care with an aim to making services more robust to future periods of disruption

TH17 cells in transplantation biology

EThOS - Electronic Theses Online ServiceGBUnited Kingdo

Neovascular age-related macular degeneration: disease pathogenesis and current state of molecular biomarkers predicting treatment response-a scoping review.

Age-related macular degeneration is a major cause of blindness, and the development of anti-vascular endothelial growth factor (VEGF) intravitreal treatments has revolutionised the management of the disease. At the same time, new challenges and unmet needs arose due to the limitations of the current therapeutic options. Neovascularisation development during the course of the disease has a complex pathogenetic mechanism, and several biomarkers and their association with treatment outcomes have been investigated. We reviewed the relevant literature about neovascularisation development and biomarkers related to response to treatment. Improving our knowledge on the field can improve patient outcomes and offer personalised care

Lessons of the month 2: Retinal vasculitis: a first presentation of Takayasu's arteritis

Takayasu's arteritis is a chronic, systemic, large-vessel vasculitis affecting the aorta and its primary branches. However, coronary, renal and pulmonary arteries and small vessel involvement has been documented. We describe a rare case of Takayasu's arteritis with extensive supra-aortic arch disease, manifesting with bilateral occlusive retinal vasculitis as a first presentation. This is elicited by fundus findings of vascular sheathing and fundus fluoresceine angiography evidence of retinal vessel occlusion and peripheral capillary non-perfusion

Pathways to detection of non-infectious childhood uveitis in the UK: Findings from the UNICORN cohort study

Purpose : Prompt detection of childhood uveitis is key to minimising negative impact. From an internationally unique inception cohort, we report pathways to disease detection. // Methods : UNICORN is a national childhood non-infectious uveitis inception cohort study with longitudinal prospective collection of a standardised clinical dataset and patient reported outcomes. Descriptive analysis have been undertaken to report baseline characteristics. // Results : Interim analyses are reported here based on the current complete dataset from 134 children (of 201 recruited to date across 27 hospitals): 52% are female, 28% of non-white ethnicity. Age at detection ranged from 2–17yrs (median 10). 71% have anterior, 12% intermediate, 10% anterior and intermediate, 6% pan and 1% posterior. 62% had no known systemic disease at uveitis detection. Commonest underlying diagnoses at uveitis detection were JIA (12%), TINU (8%, higher than pre-pandemic reported UK disease incidence) and sarcoid (1%). In 70% uveitis was diagnosed following onset of symptoms: time from first symptoms to uveitis detection ranged from 0-737days (median 13 days), with a median 7 days to detection for those first presenting to emergency departments, 9 days for those presenting to optometrists, versus 42 days for the 28% of symptomatic children presenting elsewhere. Non symptomatic children were detected through JIA or other systemic disease surveillance (25%), routine optometry review (4%) or child visual health screening (2%). At disease detection, in at least one eye: 34% had structural complications (presence of which were associated with greater median time to detection – 17 days versus 4 days for uncomplicated presentation) Posterior synechiae 28% Band keratopathy 9% Cataract 3% 18% had reduced vision // Conclusions : Whilst routine surveillance of children at known risk remains important, there is scope for improvement of pathways to detection. The earlier use of immunosuppression in JIA may result in a smaller ‘at risk’ population, and larger relative proportions of children with non-JIA uveitis, increasing the importance of improving awareness of childhood uveitis amongst the wider clinical communities. Forthcoming analysis on the full cohort will provide nationally representative data on management and the determinants of visual and broader developmental/well-being outcomes

Supporting positive patient experiences for rare disease care during disruptive times: findings from a national study

Aim: We describe the perceptions and experiences of healthcare services during the pandemic of those newly diagnosed with a rare, chronic eye disorder. Methods: A cross-sectional mixed-methods study nested within a multi-center inception cohort study. Participants were UK families and adolescents newly affected by childhood uveitis. Using a validated tool (Health Foundation COVID-19 Survey), we captured quantitative (analyzed using descriptive statistics) and qualitative (analyzed using content and thematic analysis) data. Results: Responses received from 60 families (September 2020–March 2022), of whom 92% felt comfortable accessing healthcare services, despite 40% reporting challenges in accessing medication. Thematic analysis identified five themes: the value of protected spaces; the positive role of digital health tools, negative experience of immature telemedicine, disintegration of care; and dealing with uncertainty. Conclusion: Our findings will support ongoing developments in care with an aim to making services more robust to future periods of disruption