Systemic lupus erythematosus (SLE) is a systemic autoimmune/inflammatory disease. Patients diagnosed with juvenile-onset SLE (jSLE), when compared to individuals with adult-onset SLE, develop more ...severe organ involvement, increased disease activity and greater tissue and organ damage. In adult-onset SLE, clinical characteristics, pathomechanisms, disease progression and outcomes do not only vary between individuals and age groups, but also ethnicities. However, in children and young people, the influence of ethnicity on disease onset, phenotype and outcome has not been investigated in detail. In this study, we investigated clinical and laboratory characteristics in pediatric SLE patients from different ethnic backgrounds (White Caucasian, Asian, Black African/Caribbean) accessing data from a national cohort of jSLE patients (the UK JSLE Cohort Study). Among jSLE patients in the UK, ethnicity affects both the disease’s clinical course and outcomes. At diagnosis, Black African/Caribbean jSLE patients show more “classical” laboratory and clinical features when compared to White Caucasian or Asian patients. Black African/Caribbean jSLE patients exhibit more renal involvement and more frequently receive cyclophosphamide and rituximab. Studies targeting ethnicity-specific contributors to disease expression and phenotypes are necessary to improve our pathophysiological understanding, diagnosis and treatment of jSLE.
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DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
BackgroundIn response to the coronavirus pandemic, the paediatric team have needed to make rapid changes to our pathways and ways of working. In this time colleagues have fast tracked the testing of ...new processes and generated ideas to deliver continuous improvement.Objectives General objective: To capture the rapid changes made to healthcare practices within the Paediatric department at Musgrove Park Hospital, Taunton in response to the coronavirus pandemic and to share learning across the directorate.Specific ObjectivesTo capture the strategies used to strengthen services and pathways for children, young people and familiesTo identify the barriers to better patient care within the paediatric departmentTo facilitate shared learningMethodsIn June 2020, to capture the rapid changes in response to the coronavirus pandemic, the quality improvement ‘Change Wall’ initiative was used. Core teams and individuals in the paediatric department at Musgrove Park Hospital were asked five questions regarding changes to the department based on plan, do, study, act (PDSA) cycles. Responses were collated and shared via a wall display to disseminate key learning points.ResultsWe had responses from 13 teams within the paediatric department. Results showed respondents were broadly aiming to address three aspects of care in response to the coronavirus pandemic: ensuring appropriate and timely paediatric support for the acute services; striving to continue to maintain high quality communication with patients and their families; and to alter the physical environment in order to reduce the potential transmission of COVID-19.Data captured showed multiple initiatives have been introduced. A key development was the introduction of a second paediatric high dependency area. An outpatient department working party was established and the waiting lists for new patients reduced from six months to two weeks. With paediatric oncology patients no longer able to ring the bell to celebrate the end of their treatment, a ‘party in a box’ was introduced.To be able to provide greater out-of-hours support, the children and young people’s mental health team and diabetes nursing team flexed their patterns of working.Colleagues in the children’s eating disorder service have changed their working too, which has helped to prevent long inpatient admissions. In one innovative case, they offered nasogastric tube feeding top ups at home, supported by the children’s community nursing team, and prevented a child from being admitted to the most specialist care for four to six months.ConclusionsOverall, many of the changes have been felt to be positive and are being evaluated to continue long term because of the perceived benefit to patient care and the potential to ease winter pressures. We plan to continue to use the change wall to capture changes made within paediatrics beyond coronavirus. This will allow us to continue to disseminate knowledge of changes happening and inspire further change. We plan to re-visit each team in the next six months to explore which improvements have been sustained or adapted. Moving forward we also aim to capture the view of the patient and parent/carer with regards to their perceptions of changes made.
ObjectivesThe paediatric landscape for the care needs of young people is rapidly evolving. Traditional models of care pathways and team colleagues in our acute hospital settings need to advance at ...pace. Colleagues have come together locally to reflect upon shared experiences & to co-produce ideas about how to ‘CREATE’: Create the Right Environment for Adolescents & Team colleagues, to Empower teams caring for young people on our children’s unit.MethodsFollowing complex cases on our acute unit, a joint reflective open session was held in September 2021 with paediatrics, CAMHS, lead nurses, medical directors, chief medical officers, occupational therapists, head of resilience/training, social workers, psychologist, physiotherapists, playteams, security and mental health nurses. The huge response clearly demonstrated the desire to influence productive, supportive change for our environment and to explore how best to support distressed young people. The CREATE team was born: ‘an umbrella concept’ representing a multidisciplinary group leading change for the young person’s voice, training, supporting colleagues, culture, our clinical care and physical environment.ResultsThe CREATE workstreams include:1. Clinical Care/Young Person & Family ExperienceIndividualised daily care plans; optimising care introducing ‘tell it once’ and ‘this is me’ documents; exploring nurse led HEADSSS screening (identifying risk of trauma/adverse childhood experiences); identifying young persons advocate; exploring ‘therapeutic education’.2. Workforce planningSuccessfully leading business cases for expansion of children and young people social, emotional and mental health nurse team; band 3 nursing support; youth worker; occupational therapist; activities co-ordinator; consultant (specialist interest in adolescent health).3. Engagement/CultureCapturing colleague experience: ‘Your Voice - Behaviours that challenge’: powerful feedback created collaborative improvements; reframing language used; recognition of re-traumatisation for young person/colleagues; continued development of monthly ‘drop -in’/safe space for MDT to share feelings with CAMHS staff regarding complex/traumatising cases.4. Environmental ImprovementsChildren & Young People National Survey results used to create a ‘sanctuary space’ for young people on the acute unit, utilising local funding bids in liaison with ‘Arts For Life’ and co-production from young people/colleagues.5. Training/Education/Quality ImprovementRecognition of trauma informed care underpinning experience/training with the development of a generic module and specific multi-disciplinary simulation situation learning; trauma informed workstream created to support the trust strategy process; The ‘We Can Talk’ QI project has been rolled out across whole acute trust to develop and implement ‘Emotional Observations’ for those aged 12–18 years old in acute services, in order to imbed parity of esteem within practice for all children/young people.ConclusionsThe CREATE project has developed over 10 months and demonstrates what can be successfully be achieved with listening to the voices of colleagues and experiences of children and young people on our acute unit, alongside the desire for change to meet the evolving and sometimes complex needs of young people presenting to an acute hospital setting. Further development is in progress including the concept of true co-production of this project, understanding and changing the landscape for restorative clinical and managerial supervision for acute colleagues in line with mental health colleagues.
Juvenile spring eruption: a seasonal rash Hope, Claire; Modgil, Gita
Archives of disease in childhood. Education and practice edition,
02/2023, Volume:
108, Issue:
1
Journal Article
KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with ...excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients.
In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817.
90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3–10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA1c and sulfonylurea at all time points (ie, pre-transfer for HbA1c, year 1, and most recent follow-up; n=64)—median HbA1c was 8·1% (IQR 7·2–9·2; 65·0 mmol/mol 55·2–77·1) before transfer to sulfonylureas, 5·9% (5·4–6·5; 41·0 mmol/mol 35·5–47·5; p<0·0001 vs pre-transfer) at 1 year, and 6·4% (5·9–7·3; 46·4 mmol/mol 41·0–56·3; p<0·0001 vs year 1) at most recent follow-up (median 10·3 years IQR 9·2–10·9). In the same patients, median sulfonylurea dose at 1 year was 0·30 mg/kg per day (0·14–0·53) and at most recent follow-up visit was 0·23 mg/kg per day (0·12–0·41; p=0·03). No reports of severe hypoglycaemia were recorded in 809 patient-years of follow-up for the whole cohort (n=81). 11 (14%) patients reported mild, transient side-effects, but did not need to stop sulfonylurea therapy. Seven (9%) patients had microvascular complications; these patients had been taking insulin longer than those without complications (median age at transfer to sulfonylureas 20·5 years IQR 10·5–24·0 vs 4·1 years 1·3–10·2; p=0·0005). Initial improvement was noted following transfer to sulfonylureas in 18 (47%) of 38 patients with CNS features. After long-term therapy with sulfonylureas, CNS features were seen in 52 (64%) of 81 patients.
High-dose sulfonylurea therapy is an appropriate treatment for patients with KCNJ11 permanent neonatal diabetes from diagnosis. This therapy is safe and highly effective, maintaining excellent glycaemic control for at least 10 years.
Wellcome Trust, Diabetes UK, Royal Society, European Research Council, Norwegian Research Council, Kristian Gerhard Jebsen Foundation, Western Norway Regional Health Authority, Southern and Eastern Norway Regional Health Authority, Italian Ministry of Health, Aide aux Jeunes Diabetiques, Societe Francophone du Diabete, Ipsen, Slovak Research and Development Agency, and Research and Development Operational Programme funded by the European Regional Development Fund.
Introduction: The ABCD Omnipod® Worldwide Audit launched in 2021 with the aim of capturing routine clinical outcomes from users in the real-world. This analysis reports glucose outcomes, including ...comparisons between pump-naïve and established pump-users starting on Omnipod DASH® Insulin Management System.
Methods: Individuals were included in the analysis if relevant baseline and follow-up data were available. Change in HbA1c, time-in-range (TIR, 70-180mg/dL), time below range (TBR, <70mg/dL) and total daily dose of insulin were assessed using paired T-tests. For glucose outcomes, stratified analyses were performed to compare the outcomes between those new to pump therapy (“new”) and those already established (“established”).
Results: Over a median follow-up of 2.3years (IQR 1.2-3) we included 235 individuals from the UK with baseline mean±SD HbA1c 8.1±1.4%; age 36.0±16.5years; diabetes duration 21.7±14.9years; 34.0% (n=82/235) were new to pump therapy. Across the whole population HbA1c reduced by 0.3% (95%CI 0.1, 0.5; P<0.01). Stratified by previous therapy, HbA1c reductions were statistically significant in the “new” group (0.5%; 95%CI 0.1, 0.8; P=0.01). TIR, TBR and HbA1c levels were maintained in those in the “established” group. Total daily dose decreased from 41.4units to 36.9units (-4.4; 95%CI 0.8, 8.1; P=0.018) between baseline and follow-up. Of those asked to rate on a 7-point Likert scale, 82/84 (97.6%) stated Omnipod DASH had improved their quality of life and 83/86 (96.5%) would recommend the system to other people with diabetes.
Conclusion: In individuals new to pump therapy, Omnipod DASH is associated with clinically meaningful reductions in HbA1c, reduced insulin requirements and improved quality of life. Individuals switching to Omnipod DASH from other pumps maintained previous HbA1c levels, TIR and TBR.
Disclosure
T.S.J.Crabtree: Speaker's Bureau; Abbott Diabetes, Novo Nordisk, Lilly, Sanofi, Insulet Corporation. E.G.Wilmot: Advisory Panel; Abbott Diabetes, Dexcom, Inc., Eli Lilly and Company, Insulet Corporation, Medtronic, Novo Nordisk, Sanofi, Roche Diabetes Care, Embecta, Consultant; Springer Healthcare, Research Support; Abbott Diabetes, Diabetes UK, Insulet Corporation, Novo Nordisk, NIH - National Institutes of Health, Speaker's Bureau; Abbott Diabetes, Dexcom, Inc., Eli Lilly and Company, Insulet Corporation, Medtronic, Novo Nordisk, Sanofi, Ypsomed AG, Glooko, Inc. M.Haq: None. N.Hasan: None. D.M.Williams: None. E.R.Gatdula: None. E.Chinnasamy: None. J.Varghese: None. G.Modgil: None. R.E.Ryder: Other Relationship; Novo Nordisk, Speaker's Bureau; GI Dynamics, BioQuest.
Funding
Insulet Corporation
Juvenile-onset systemic lupus erythematosus (jSLE) affects 15-20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable ...pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated with SLE/SLE-like disease in a large national cohort (UK JSLE Cohort Study) and compare demographic, clinical and laboratory features in patient sub-cohorts with 'genetic' SLE vs remaining SLE patients.
Based on a sequencing panel designed in 2018, target enrichment and next-generation sequencing were performed in 348 patients to identify damaging gene variants. Findings were integrated with demographic, clinical and treatment related datasets.
Damaging gene variants were identified in ∼3.5% of jSLE patients. When compared with the remaining cohort, 'genetic' SLE affected younger children and more Black African/Caribbean patients. 'Genetic' SLE patients exhibited less organ involvement and damage, and neuropsychiatric involvement developed over time. Less aggressive first line treatment was chosen in 'genetic' SLE patients, but more second and third line agents were used. 'Genetic' SLE associated with anti-dsDNA antibody positivity at diagnosis and reduced ANA, anti-LA and anti-Sm antibody positivity at last visit.
Approximately 3.5% of jSLE patients present damaging gene variants associated with younger age at onset, and distinct clinical features. As less commonly observed after treatment induction, in 'genetic' SLE, autoantibody positivity may be the result of tissue damage and explain reduced immune complex-mediated renal and haematological involvement. Routine sequencing could allow for patient stratification, risk assessment and target-directed treatment, thereby increasing efficacy and reducing toxicity.
Introduction
Juvenile-onset systemic lupus erythematosus (JSLE) is a rare autoimmune/inflammatory disease with significant morbidity and mortality. Neuropsychiatric (NP) involvement is a severe ...complication, encompassing a heterogeneous range of neurological and psychiatric manifestations.
Methods
Demographic, clinical, and laboratory features of NP-SLE were assessed in participants of the UK JSLE Cohort Study, and compared to patients in the same cohort without NP manifestations.
Results
A total of 428 JSLE patients were included in this study, 25% of which exhibited NP features, half of them at first visit. Most common neurological symptoms among NP-JSLE patients included headaches (78.5%), mood disorders (48.6%), cognitive impairment (42%), anxiety (23.3%), seizures (19.6%), movement disorders (17.7%), and cerebrovascular disease (14.9%). Peripheral nervous system involvement was recorded in 7% of NP-SLE patients. NP-JSLE patients more frequently exhibited thrombocytopenia (<100 × 109/L) (p = 0.04), higher C-reactive protein levels (p = 0.01), higher global pBILAG score at first visit (p < 0.001), and higher SLICC damage index score at first (p = 0.02) and last (p < 0.001) visit when compared to JSLE patients without NP involvement.
Conclusions
A significant proportion of JSLE patients experience NP involvement (25%). Juvenile-onset NP-SLE most commonly affects the CNS and is associated with increased overall disease activity and damage.
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DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
The DH pilot projects demonstrated that parents/young people do want copies of clinic letters, improving satisfaction and empowerment. 3 Despite this, apprehension remains among doctors concerning ...confidentiality, child protection, further workload and complaints. Studies looking at clinical correspondence between general practitioners and consultants illustrate marked variation in desirable content and thoroughness of communication between these groups. 4 Structured correspondence is strongly preferred and increases comprehension. 5 The previously filed letter is highly influential and common practice is to refer to this letter, especially for new SpRs.
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