Assessing competences, needs, and satisfaction with health care in transition in rheumatology: Development and Validation of the Transition-KompAZ.

OBJECTIVE: The aim of this study was to develop and psychometrically validate a self-report instrument to assess (1) competences, (2) needs, and (3) satisfaction among youth transitioning from pediatric to adult rheumatology. METHODS: The Transition-KompAZ was developed in several steps with conceptual and psychometric analyses. The instrument was administered to adolescents and young adults (AYA, 16-25 years) with inflammatory rheumatic diseases before (group 1) or after (group 2) transfer to adult rheumatology to test its psychometric properties. A two-factor higher-order confirmatory factor analysis (CFA) model was applied to test the hypothesized factor structure. Internal consistency was estimated using the approach of Raykov with the factor loadings and error variances estimated in the CFA. Spearman rank correlation coefficients were used to assess construct validity. RESULTS: The Transition-KompAZ includes the following modules: (1) competences in transition [knowledge; self-management], (2) needs [health care services, information], and (3) satisfaction [general; transitional care]. A total of 173 AYA (group 1: n=86, group 2: n=87) from 12 rheumatology sites completed the Transition-KompAZ. It showed good model fit (Comparative Fit Index >0.9, Tucker-Lewis Index >0.9; Weighted Root Mean Square Residual <0.9) with good internal consistency. The instrument demonstrated moderate to good construct validity, and good test-retest reliability. CONCLUSION: The Transition-KompAZ appears to be a reliable tool for assessing important dimensions of transition. It may support a structured and individualized transition and the evaluation of transition services. However, further studies are required to assess its predictive value in terms of transfer readiness and successful transition.

Sexual dysfunction and depression in Behçet's disease in comparison to healthy controls.

Behçet's disease (BD) can affect the genital system and is more common in Middle Eastern countries and Asia but also occurs in Caucasian people. Aim of this study was to evaluate the prevalence of sexual dysfunction (SD) and depression in patients with BD compared to a healthy control group (HCG). In addition, differences with regard to depression and patients' origin were evaluated. This prospective, monocentric study included 106 consecutive patients from our specialized BD outpatient clinic. Patients were asked to fill out the paper based standardized and validated questionnaires International Index of Erectile Function (IIEF), the Female Sexual Function Index (FSFI) and the Beck Depression Inventory (BDI). In addition, 206 healthy controls were asked to fill out the questionnaires. 106 patients with BD were evaluated and 206 participants in the HCG. The mean age in BD group was 40.5 years as compared to 44.4 years in the HCG. Half of the patients had Middle Eastern and half Caucasian origin. SD was found in 24.5% of all subjects. Only 6.9% of male patients showed signs of SD, while half of the women's group was suffering from SD. The prevalence for SD was significantly higher in women with Middle Eastern ethnic origin compared to women with Caucasian origin (75 vs. 33.3%, p = 0.024). Erectile Dysfunction occurred in 55% of all male patients which was not statistical different from the HCG. Genital ulcers affected 73.6% of all patients. Depression was found in 36.7% of all subjects as compared to 6.25% in the HCG (p < 0.001). Both, SD and depression correlated positively in males (p = 0.017) and females (p = 0.013). SD and depression are very common problems in BD and should be addressed by the treating physician. Both manifestations are intensifying each other. Depression especially is more prevalent compared to the healthy population.

Health-related quality of life, continuity of care and patient satisfaction: long-term outcomes of former patients of the Tuebingen Transition Program (TTP) - a retrospective cohort study.

BACKGROUND: A significant number of patients in pediatric rheumatology suffer from ongoing disease activity into adulthood and thus need to be transferred into adult care. Transition as a structured individual process of preparation and patient empowerment can reduce risks of adverse long-term outcomes. The aim of this study was to measure long-term transition outcomes such as health-related quality of life (HR-QoL), patient satisfaction, and continuity of care in former patients of the interdisciplinary Tuebingen Transition Program (TTP). METHODS: In an iterative team process, a standardized questionnaire was developed including the EQ-5D-5L to measure HR-QoL, visual analogue scales to measure various items of patient satisfaction, further questions on continuity of care and physical activity and physician global assessment (PGA) to determine disease activity. HR-QoL and physical activity were compared to data from the average German population. Data was analyzed descriptively, and a logistic regression analysis was performed to identify possible predictive factors for negative outcomes. RESULTS: Response rate was 28.8% (85/295), 70.6% were female and median age was 24.1 years. 70.6% were diagnosed with juvenile idiopathic arthritis (JIA). Overall, HR-QoL was high (79.8 on the EQ VAS), yet lower than in the average population. The study cohort was more physically active than the respective average age groups. Mean patient satisfaction with pediatric care (8.4; standard deviation (SD) 1.7) and with the transition program (7.9; SD 2.6) was higher than with adult care (7.7; SD 2.2). 76.5% of participants received regular rheumatologic care after transfer. After excluding all participants in remission, the drop-out rate was 4.7%. A low PGA at the time of transfer was associated with higher HR-QoL and patient satisfaction after transfer. CONCLUSIONS: HR-QoL of adult patients after successful transfer to adult rheumatology is reduced compared to the general population but physical activity and achievement of clinical remission could help to prevent negative long-term outcomes. Patient satisfaction and self-management of TTP patients were generally high, whereas youth-specific issues and their impact on the disease mandate greater attention. Treatment discontinuation rates were low and mostly due to remission. Further studies should focus on the identification of early predictors of long-term outcome to improve the process and outcome of transition.

Phosphorylated c-Mpl tyrosine 591 regulates thrombopoietin-induced signaling.

Thrombopoietin (TPO) is the primary regulator of platelet production, affecting cell survival, proliferation, and differentiation through binding to and stimulation of the cell surface receptor the cellular myeloproliferative leukemia virus oncogene (c-Mpl). Activating mutations in c-Mpl constitutively stimulate downstream signaling pathways, leading to aberrant hematopoiesis, and contribute to development of myeloproliferative neoplasms. Several studies have mapped the tyrosine residues within the cytoplasmic domain of c-Mpl that mediate these cellular signals; however, secondary signaling pathways are incompletely understood. In this study, we focused on c-Mpl tyrosine 591 (Y591). We found Y591 of wild-type c-Mpl to be phosphorylated in the presence of TPO. Additionally, eliminating Y591 phosphorylation by mutation to Phe resulted in decreased total receptor phosphorylation. Using a Src homology 2/phosphotyrosine-binding (SH2/PTB) domain binding microarray, we identified novel c-Mpl binding partners for phosphorylated Y591, including Src homology region 2 domain-containing phosphatase-1 (SHP-1), spleen tyrosine kinase (SYK) and Bruton's tyrosine kinase (BTK). The functional significance of binding partners was determined through small interfering RNA treatment of Ba/F3-Mpl cells, confirming that the increase in pERK1/2 resulting from removal of Y591 may be mediated by spleen tyrosine kinase. These findings identify a novel negative regulatory pathway that controls TPO-mediated signaling, advancing our understanding of the mechanisms required for successful maintenance of hematopoietic stem cells and megakaryocyte development.

[Unusual cause of macrohematuria in a 29-year-old woman]. / Seltene Ursache einer Makrohämaturie bei einer 29-jährigen Patientin.

HISTORY AND ADMISSION FINDINGS: We report on the case of a young women presenting with macrohaematuria, petechiae and strong headaches. INVESTIGATIONS: Laboratory showed a thrombotic microangiopathy with helmet cells, increased LDH levels (>600 U/l), and thrombocytopenia (<40,000/µl). DIAGNOSIS, TREATMENT AND COURSE: Due to strong haemolytic activity and headache with blurred vision, immediate plasma separation with fresh frozen plasma was commenced. Markedly decreased ADAMTS13 activity and detection of anti-ADAMTS13 antibodies were consistent with the diagnosis of idiopathic thrombotic thrombocytopenic purpura. In total, 11 plasma separations were required to stop disease activity. In parallel, immunosuppressive therapy using glucocorticoids was initiated. The patient was discharged from the hospital in a good general condition and with normalized laboratory findings 26 days after hospitalization. CONCLUSIONS: All patients with anemia and thrombocytopenia should be tested for haemolysis and helmet cells. An early diagnosis and initiation of necessary therapy are determining for the clinical outcome.