| 1. |
- Israni, Muskan, et al.
(författare)
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Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
- 2023
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 43:1, s. 206-216
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Tidskriftsartikel (refereegranskat)abstract
- Due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. Effective transition from pediatric to adult services is known to significantly improve adherence to treatment and long-term outcomes. It is currently not known what transition services are available for young people with IEI in Europe.To understand the prevalence and practice of transition services in Europe for young people with IEI, encompassing both primary immunodeficiencies (PID) and systemic autoinflammatory disorders (AID).A survey was generated by the European Reference Network on immunodeficiency, autoinflammatory, and autoimmune diseases Transition Working Group and electronically circulated, through professional networks, to pediatric centers across Europe looking after children with IEI.Seventy-six responses were received from 52 centers, in 45 cities across 17 different countries. All services transitioned patients to adult services, mainly to specialist PID or AID centers, typically transferring up to ten patients to adult care each year. The transition process started at a median age of 16-18years with transfer to the adult center occurring at a median age of 18-20years. 75% of PID and 68% of AID centers held at least one joint appointment with pediatric and adult services prior to the transfer of care. Approximately 75% of PID and AID services reported having a defined transition process, but few centers reported national disease-specific transition guidelines to refer to.Transition services for children with IEI in Europe are available in many countries but lack standardized guidelines to promote best practice.
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| 2. |
- Maccari, Maria Elena, et al.
(författare)
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
- 2023
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Ingår i: The Journal of allergy and clinical immunology. - 1097-6825. ; 152:4
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Tidskriftsartikel (refereegranskat)abstract
- Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS.Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs.The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS.APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.
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| 3. |
- Potts, Courtney, et al.
(författare)
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A Multilingual Digital Mental Health and Well-Being Chatbot (ChatPal): Pre-Post Multicenter Intervention Study
- 2023
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Ingår i: Journal of Medical Internet Research. - : JMIR Publications. - 1438-8871. ; 25
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Tidskriftsartikel (refereegranskat)abstract
- Background: In recent years, advances in technology have led to an influx of mental health apps, in particular the development of mental health and well-being chatbots, which have already shown promise in terms of their efficacy, availability, and accessibility. The ChatPal chatbot was developed to promote positive mental well-being among citizens living in rural areas. ChatPal is a multilingual chatbot, available in English, Scottish Gaelic, Swedish, and Finnish, containing psychoeducational content and exercises such as mindfulness and breathing, mood logging, gratitude, and thought diaries.Objective: The primary objective of this study is to evaluate a multilingual mental health and well-being chatbot (ChatPal) to establish if it has an effect on mental well-being. Secondary objectives include investigating the characteristics of individuals that showed improvements in well-being along with those with worsening well-being and applying thematic analysis to user feedback.Methods: A pre-post intervention study was conducted where participants were recruited to use the intervention (ChatPal) for a 12-week period. Recruitment took place across 5 regions: Northern Ireland, Scotland, the Republic of Ireland, Sweden, and Finland. Outcome measures included the Short Warwick-Edinburgh Mental Well-Being Scale, the World Health Organization-Five Well-Being Index, and the Satisfaction with Life Scale, which were evaluated at baseline, midpoint, and end point. Written feedback was collected from participants and subjected to qualitative analysis to identify themes.Results: A total of 348 people were recruited to the study (n=254, 73% female; n=94, 27% male) aged between 18 and 73 (mean 30) years. The well-being scores of participants improved from baseline to midpoint and from baseline to end point; however, improvement in scores was not statistically significant on the Short Warwick-Edinburgh Mental Well-Being Scale (P=.42), the World Health Organization-Five Well-Being Index (P=.52), or the Satisfaction With Life Scale (P=.81). Individuals that had improved well-being scores (n=16) interacted more with the chatbot and were significantly younger compared to those whose well-being declined over the study (P=.03). Three themes were identified from user feedback, including “positive experiences,” “mixed or neutral experiences,” and “negative experiences.” Positive experiences included enjoying exercises provided by the chatbot, while most of the mixed, neutral, or negative experiences mentioned liking the chatbot overall, but there were some barriers, such as technical or performance errors, that needed to be overcome.Conclusions: Marginal improvements in mental well-being were seen in those who used ChatPal, albeit nonsignificant. We propose that the chatbot could be used along with other service offerings to complement different digital or face-to-face services, although further research should be carried out to confirm the effectiveness of this approach. Nonetheless, this paper highlights the need for blended service offerings in mental health care.
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