Forms, interactions, and responses to social support : a qualitative study of support and adherence to photoprotection amongst patients with Xeroderma Pigmentosum

OBJECTIVES: Social support influences adherence to treatment in chronic illness, but there is uncertainty about its facilitators and constraints. This study explored the forms, processes, and responses associated with mobilization of informal support across three life contexts amongst patients with Xeroderma Pigmentosum (XP), a condition requiring rigorous photoprotection to reduce cancer risks. DESIGN: Qualitative interview study. METHODS: A total of 25 adults with XP participated in semi-structured interviews conducted face to face. An inductive thematic analysis was applied using a framework approach. RESULTS: Practical support, involving both assistance with recommended photoprotection and adjusting daily activities to reduce exposure, was the key form of support provided by family and friends. However, responses to this support differed with two groups identified based on the relative priority given to photoprotection in daily life and processes of disclosure. For 'positive responders', support aligned with their own priorities to photoprotect, conveyed feelings of being cared-for and was facilitated by talking openly. In contrast, for 'negative responders' support conflicted with their priority of living 'normally' and their limited disclosure hindered receipt of helpful support in personal, clinic, and work interactions. Fears of workplace stigma also reduced disclosure amongst participants open in other contexts. CONCLUSIONS: Practical support conveyed psychosocial support with positive effects on adherence. This suggests the traditional separation into practical and emotional support is overly simplistic, with measures potentially missing important aspects. Interactional processes contribute to the effects of support, which can be addressed by targeting disclosure, stigma, and other barriers at individual and organizational levels. Statement of contribution What is already known on this subject? Social support can be both a facilitator and a hindrance to treatment adherence. Practical support is identified as the most important form of support in the context of adherence. The processes of support underpinning its relationship to adherence are unclear. What does this study add? Variations in the provision and impacts of support are influenced by participants' disclosure and attitudes to photoprotection, with two key groups comprising 'positive responders' and 'negative responders'. The influence of emotional support on adherence may be underestimated through neglect of the ways in which practical support often conveys feelings of being valued and cared-for. Barriers to mobilizing effective adherence support extends across life spheres, with fears of stigma and discrimination in work settings highlighting the need to intervene at individual and organizational levels

“It's tough because I see that it's upsetting her…”: A qualitative exploration of parents’ perceptions of talking with their adolescents about having a visible difference

Many adolescents live with a visible difference that affects their lives in profound ways, but studies investigating parents’ perceptions of raising appearance issues during conversations with their adolescent are lacking. As part of a larger study exploring the effectiveness of a web-based intervention (YP Face IT), semi-structured interviews were conducted with 18 parents of adolescents with a visible difference. Thematic analysis revealed four overarching themes: (1) Conversational settings; (2) Understanding adolescents’ feelings and thoughts; (3) Providing parental guidance and encouragement; and (4) When the dialogue becomes difficult. Results showed that parents resorted to specific settings when instigating conversations about appearance, such as when their adolescents expressed a need for emotional care, were perceived to be upset, or whilst managing their condition. The choice of setting was also important as some parents generally felt uncomfortable raising appearance issues with their adolescent, for fear of fueling appearance concerns. Results further suggest that open communication can enable parents to stay informed about their adolescent's psychosocial adjustment to a visible difference. These results stress the need to make available support to facilitate open communication about appearance-related topics between parents and adolescents

Facial disfigurement The full picture; a comprehensive guide to facial disfigurement

SIGLEAvailable from British Library Document Supply Centre-DSC:98/29776 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves β-cell Survival And Function Under Cytokine-Induced Inflammation

Background/Aims: Type 1 diabetes (T1D) is a disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β and IFNγ inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways may improve β cell survival in the context of inflammation after T1D onset. Methods: We knocked-down IL1R1 or IFNGR1 receptors in the MIN6 β-cell line by using the CRISPR/Cas9 gene editing system. Results: The knockdown efficiency was evaluated by immunostaining and ranged from 12 to 40%. Naive MIN6 or CRISPR-KnockedOut MIN6 cells were then treated with IL1β or IFNγ during 48 h at various concentrations (5 or 10 ng/mL). Cell viability of CRISPR-IFNGR1 and CRISPR-IL1R1 cell lines was improved after cytokine exposure compared to naive MIN6 (117 ± 16 vs 84 ± 19%; p=0.015 and 134 ± 20 vs 71 ± 4%; p=0.016). The assessment of insulin secretion capacities of CRISPR-IFNGR1 and CRISPR-IL1R1 cells showed higher secretion rates (1.24 ± 0.21 vs 0.35 ± 0.14 I.A.; p= 0.006 and 0.91 ± 0.22 vs 0.32 ± 0.09; p=0.014), after cytokine treatment, as compared to naive MIN6. Gene expression of the pro-apoptotic receptor Fas was decreased inside the CRISPR-MIN6 cell lines and the expression of the pro-inflammatory cytokine Il6 gene was decreased inside the CRISPR-IL1R1 cell line, as compared to MIN6 controls. Similarly, gene expression of ER stress markers Atf4 and Chop decreased inside the CRISPR-IL1R1 and CRISPR-IFNGR1 cell lines, respectively, as compared to controls. Our results show that the targeting of IL1R1 or IFNGR1 could protect pancreatic β cells from the inflammatory attack found in T1D by decreasing apoptosis, inflammation and ER stress. Conclusion: Our results show the feasibility of the CRISPR technique to protect β cells are encouraging and require the development of the three-cytokine receptor (IL1R1, IFNGR1 and TNFR1) knockdown to fully address the potential of this system to be translated into clinical research protocols. The possibility of a translational perspective of our knockdown system is suggested by the ongoing clinical trial using the CRISPR/Cas9 system to evaluate the safety of PD-1 knockout engineered T cells in treating metastatic non-small cell lung cancer (NCT02793856)

Nasobiliary drainage prior to surgical biliary diversion in patients with progressive familial intrahepatic cholestasis type II.

Objectives and study: Progressive familial intrahepatic cholestasis (PFIC) can cause intense pruritus refractory to medical therapy. Surgical biliary diversion techniques, including partial internal biliary diversion (PIBD), have been developed over the years to relieve pruritus without requiring liver transplantation. Despite the efficacy and safety of PIBD procedure, some patients do not respond to surgery and there is currently no possibility to predict pruritus response according to genotype or other clinical parameters. Our aim was to evaluate nasobiliary drainage (NBD) as a method to predict pruritus response to PIBD, in order to avoid unnecessary surgery. Methods: We present two PFIC 2 patients who underwent two and three transient endoscopic NBD prior to PIBD surgery, which was performed at the age of 25 and 28 years old respectively. Both patients suffered from invalidating pruritus refractory to medical therapy. Liver transplantation was not performed since both patients had normal liver function and normal liver histology (patient 1) or only very mild fibrosis (patient 2). Pruritus was assessed according to the following score: 0 = none, 1 = rubbing or mild scratching when undistracted, 2 = active scratching without evident skin abrasions, 3 = abrasions evident, 4 = cutaneous mutilation and scarring evident, impaired quality of life. Results: Both patients repeatedly responded to NBD (pruritus score 4 to 0-1) and had complete pruritus resolution after subsequent PIBD (score 4 to 0). Serum total biliary acids (TBA) decreased from 282 µmol/L and 314.4 µmol/L before PIBD to 40.7 µmol/L and 220.9 µmol/L after PIBD respectively (normal TBA levels < 10 µmol/L). Follow-up duration after surgery was seven years for patient 1 and one month for patient 2. Pruritus did not recur after PIBD in our patients despite important variations in TBA levels during follow-up. Mild post-endoscopic biological pancreatitis occurred in 1/5 NBD procedures, and resolved spontaneously. The only adverse effect observed within 7 years post-PIBD was very mild transient osmotic diarrhoea, easily treated with cholestyramine. Conclusion: Our data suggest that NBD is a safe and effective way to predict pruritus response before performing a permanent biliary diversion surgery in PFIC patients

Evaluating a schools' service for children with a facial disfigurement: the views of teaching and support staff

In this article Lindsay O’Dell and Jess Prior present the findings of a small surv e y, organised as a collaborative project to evaluate a schools’ service, set up in 1998 by the charity Changing Fa c e s1 to assist pupils with facial disfigurements. Twenty schools responded, each of which had a pupil in their school, aged between 3–16 years, with a facial disfigurement. Qualitative and quantitative questions addressed schools’ expectations of the service, ratings of visits from Changing Faces, helpful/unhelpful aspects of the s e rvice and suggestions for improvements, as well as information about the child and school. The data was analysed using both quantitative data and a qualitative thematic analysis. Findings point to reasons for initial contact, and effectiveness of any interv e n t i o n . Whilst many families and schools seek support in times of crisis, sometimes contact is made to try and prevent future difficulties. Professionals working in education may have much to learn from cases where the child, school and family are all coping well. Future research plans include extending this pilot surv e y to include the views of a wider range of schools as well as those of the children and families involved

Phage therapy to allow liver transplantation in a toddler infected by an extensively-drug resistant Pseudomonas aeruginosa

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