Direct comparison of steroid and non-steroid eluting small surface pacing leads: Randomized, multicenter clinical trial

Background: The aim of the study was to evaluate the effi cacy and safety of small surfacesteroid-eluting atrial and ventricular pacing leads in comparison to non-steroid leads usingremote monitoring system (Biotronik Home Monitoring®).Methods: In this randomized multicenter prospective trial, SIELLO T steroid-eluting ventricularleads (n = 42) were compared to BPPU T non-steroid leads (n = 46) and SIELLOJT steroid-eluting atrial leads (n = 24) to BPPU JT non-steroid leads (n = 27) (Biotronik,Berlin, Germany) in pacemaker devices with remote monitoring capabilities. Lead parameterswere evaluated during implantation, at 1-week and 1, 3, 6-month outpatient follow-up. Remotemonitoring data were collected weekly.Results: Atrial and ventricular steroid-eluting leads had stable sensing and impedance ascompared to non-steroid leads at implantation and during follow-up. Patients with non-steroidatrial leads had signifi cantly higher threshold compared to steroid leads at 1-week and at1, 3, 6-month follow-up with a peak at 1-month (1-month 1.4 ± 0.6 vs. 0.7 ± 0.3 V at 0.4 ms,p < 0.001; 6-month 0.3 ± 0.5 vs. 0.2 ± 0.3 V at 0.4 ms, p = 0.002). Patients with non-steroidventricular leads had signifi cantly higher threshold compared to steroid leads at 1, 3, 6-month(6-month 1.0 ± 0.3 vs. 0.6 ± 0.2 V at 0.4 ms, p < 0.001). Remote monitoring confi rmed consistentresults. During the study, 3 patients died of non-lead-related death. Lead repositioningwas necessary in 2 atrial, 2 ventricular steroid leads and in 1 ventricular non-steroid lead.Conclusions: Atrial and ventricular pacemaker leads with steroid showed signifi cantly lowerpacing threshold compared to non-steroid leads, confi rmed by remote monitoring

Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD

Background: Differences in sexual development (DSD) are rare diseases, which affect the chromosomal, anatomical or gonadal sex differentiation. Although patient education is recommended as essential in a holistic care approach, standardised programmes are still lacking. The present protocol describes the aims, study design and methods of the Empower-DSD project, which developed an age-adapted multidisciplinary education programme to improve the diagnosis-specific knowledge, skills and empowerment of patients and their parents. Methods: The new patient education programme was developed for children, adolescents and young adults with congenital adrenal hyperplasia, Turner syndrome, Klinefelter syndrome or XX-/or XY-DSD and their parents. The quantitative and qualitative evaluation methods include standardised questionnaires, semi-structured interviews, and participatory observation. The main outcomes (assessed three and six months after the end of the programme) are health-related quality of life, disease burden, coping, and diagnosis-specific knowledge. The qualitative evaluation examines individual expectations and perceptions of the programme. The results of the quantitative and qualitative evaluation will be triangulated. Discussion: The study Empower-DSD was designed to reduce knowledge gaps regarding the feasibility, acceptance and effects of standardised patient education programmes for children and youth with DSD and their parents. A modular structured patient education programme with four generic and three diagnosis-specific modules based on the ModuS concept previously established for other chronic diseases was developed. The topics, learning objectives and recommended teaching methods are summarised in the structured curricula, one for each diagnosis and age group. At five study centres, 56 trainers were qualified for the implementation of the training programmes. A total of 336 subjects have been already enrolled in the study. The recruitment will go on until August 2022, the last follow-up survey is scheduled for February 2023. The results will help improve multidisciplinary and integrated care for children and youth with DSD and their families. Trial registration: German Clinical Trials Register, DRKS00023096. Registered 8 October 2020 - Retrospectively registered

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 × 10−5; follow-up: P = 0.0025; combined: 1.09 × 10−6) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE

„I Can’t Prescribe Something Just Because Someone Asks for It . . .”: Using Mixed Methods in the Framework of Triangulation

Flick U, Garms-Homolová V, Herrmann WJ, Kuck J, Röhnsch G. „I Can’t Prescribe Something Just Because Someone Asks for It . . .”: Using Mixed Methods in the Framework of Triangulation. Journal of Mixed Methods Research. 2012;6(2):97-110.This article demonstrates how a systematic triangulation of research perspectives can provide a methodological framework for the practice of mixed methods research. The authors illustrate the application of a “systematic approach” by focusing on an in-depth case study concerning the management of sleeping problems in nursing homes. Two sources of quantitative data (assessment of the status of residents and medication prescribed by physicians) and several contextualized qualitative approaches—one that focuses on physicians’ interpretive patterns concerning their prescription practices, and another that looks at nursing staff and nursing home residents’ attitudes toward sleep medication—are triangulated. The authors discuss the levels on which these perspectives can be linked, as well as the implications of their case study analysis for the methodological development of a mixed methods approach that is tied to the concept of triangulation