Mutationen im PTS-Gen und mögliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase

Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA. Thus far these end-users of JIA-research have rarely been involved in the prioritisation of future research. Main body: Dutch organisations of patients, carers and clinicians will collaboratively develop a research agenda for JIA, following the James Lind Alliance (JLA) methodology. In a 'Priority Setting Partnership' (PSP), they will gradually establish a top 10 list of the most important unanswered research questions for JIA. In this process the input from clinicians, patients and their carers will be equally valued. Additionally, focus groups will be organised to involve young people with JIA. The involvement of all contributors will be monitored and evaluated. In this manner, the project will contribute to the growing body of literature on how to involve young people in agenda setting in a meaningful way. Conclusion: A JIA research agenda established through the JLA method and thus co-created by patients, carers and clinicians will inform researchers and research funders about the most important research questions for JIA. This will lead to research that really matters.</p

Changes in body size and body composition in survivors of childhood cancer:seven years follow-up of a prospective cohort study

Background & aims: Cancer treatment is known to have impact on nutritional status, and both underweight and overweight have been reported in several studies in survivors. A limitation of most studies is that they relied on retrospective data or were limited to a subgroup of patients. The current study aims to describe changes in body size and body composition prospectively seven years after diagnosis in a heterogeneous sample of childhood cancer survivors and to evaluate associated factors. Methods: The study population consisted of children diagnosed with hematological, solid and brain malignancies aged 0–18 years at diagnosis. Data of body size, body composition, and associated factors were collected at diagnosis, one year and seven years after diagnosis. Results: In the total cohort mean BMI z-score increased during treatment. In children with hematological and brain malignancies BMI z-score continued to increase after end of treatment leading to quadrupling of the prevalence of obesity seven years after diagnosis. BMI at diagnosis (β = −0.34, P = 0.007) and maternal BMI (β = 0.25, P = 0.046) were associated with the increase in BMI z-score. Mean fat mass (FM) z-score, already high at diagnosis, increased during treatment in children with hematological and brain malignancies and evened out during follow-up. Changes in FM z-score were predicted by type of malignancy (hematologic malignancy versus solid tumor β = 0.48, P = 0.008; brain tumor versus solid tumor β = 0.45, P = 0.012). Mean fat free mass (FFM) z-scores started low at diagnosis, particularly in patients with brain tumors, increased during treatment in patients with solid and brain malignancies, though decreased in children with hematological malignancies. At 7 years follow-up a clear increase to normal was seen. Age at diagnosis (β = 0.43, P = 0.004) and initial FFM (β = −0.49, P = 0.001) were found to be significant predictors for changes in FFM z-scores. Conclusions: The finding that the once obtained extra weight and FM during treatment persisted after termination of treatment in children with hematological and brain malignancies, stresses the importance to create awareness about the risk of developing overweight in children during cancer treatment

Dutch juvenile idiopathic arthritis patients, carers and clinicians create a research agenda together following the James Lind Alliance method: A study protocol

Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA. Thus far these end-users of JIA-research have rarely been involved in the prioritisation of future research. Main body: Dutch organisations of patients, carers and clinicians will collaboratively develop a research agenda for JIA, following the James Lind Alliance (JLA) methodology. In a 'Priority Setting Partnership' (PSP), they will gradually establish a top 10 list of the most important unanswered research questions for JIA. In this process the input from clinicians, patients and their carers will be equally valued. Additionally, focus groups will be organised to involve young people with JIA. The involvement of all contributors will be monitored and evaluated. In this manner, the project will contribute to the growing body of literature on how to involve young people in agenda setting in a meaningful way. Conclusion: A JIA research agenda established through the JLA method and thus co-created by patients, carers and clinicians will inform researchers and research funders about the most important research questions for JIA. This will lead to research that really matters

Dutch juvenile idiopathic arthritis patients, carers and clinicians create a research agenda together following the James Lind Alliance method : A study protocol

Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA. Thus far these end-users of JIA-research have rarely been involved in the prioritisation of future research. Main body: Dutch organisations of patients, carers and clinicians will collaboratively develop a research agenda for JIA, following the James Lind Alliance (JLA) methodology. In a 'Priority Setting Partnership' (PSP), they will gradually establish a top 10 list of the most important unanswered research questions for JIA. In this process the input from clinicians, patients and their carers will be equally valued. Additionally, focus groups will be organised to involve young people with JIA. The involvement of all contributors will be monitored and evaluated. In this manner, the project will contribute to the growing body of literature on how to involve young people in agenda setting in a meaningful way. Conclusion: A JIA research agenda established through the JLA method and thus co-created by patients, carers and clinicians will inform researchers and research funders about the most important research questions for JIA. This will lead to research that really matters