Clinical Research: Evaluation of Healing Touch\u27s Effect on Coronary Artery Bypass Grafting (CABG) Recovery, a Randomized Study

This study is assessing the efficacy of Healing Touch on patients receiving Coronary Artery Bypass Grafting at St. Cloud Hospital. A single previous research study determined Healing Touch, when added to standard nursing care, can significantly reduce anxiety and length of stay in patients undergoing CABG procedures.https://digitalcommons.centracare.com/nursing_posters/1087/thumbnail.jp

Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

BACKGROUND Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research. METHODS All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022. Accuracy, consistency and completeness of variables and definitions were evaluated, and missing source data and informed consents (ICs) were assessed. RESULTS The first audit included 601 out of 997 Swiss people with CF (60.3 %). Data quality, as defined by data correctness ≥95 %, was high for most of the variables. Inconsistencies of specific variables were observed because of an incorrect application of the variable definition. The proportion of missing data was low with 5 % of missing documents). After providing feedback to the centers, availability of genetic source data and ICs improved. CONCLUSIONS Data audits demonstrated an overall good data quality in the Swiss CF registry. Specific measures such as support of the participating sites, training of data managers and centralized data collection should be implemented in rare disease registries to optimize data quality and provide robust data for registry-based scientific research

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Background: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially lead to personalized care. Therefore, we assessed the PHTS genotype and phenotype spectrum in a large cohort study. Methods: Information was collected of 510 index patients with pathogenic or likely pathogenic (LP/P) PTEN variants (n = 467) or variants of uncertain significance. Genotype-phenotype associations were assessed using logistic regression analyses adjusted for sex and age.Results: At time of genetic testing, the majority of children (n = 229) had macrocephaly (81%) or developmental delay (DD, 61%), and about half of the adults (n = 238) had cancer (51%), macrocephaly (61%), or cutaneous pathology (49%). Across PTEN, 268 LP/P variants were identified, with exon 5 as hotspot. Missense variants (n = 161) were mainly located in the phosphatase domain (PD, 90%) and truncating variants (n = 306) across all domains. A trend towards 2 times more often truncating variants was observed in adults (OR = 2.3, 95%CI = 1.5-3.4) and patients with cutaneous pathology (OR = 1.6, 95%CI = 1.1-2.5) or benign thyroid pathology (OR = 2.0, 95%CI = 1.1-3.5), with trends up to 2-4 times more variants in PD. Whereas patients with DD (OR = 0.5, 95%CI = 0.3-0.9) or macrocephaly (OR = 0.6, 95%CI = 0.4-0.9) had about 2 times less often truncating variants compared to missense variants. In DD patients these missense variants were often located in domain C2.Conclusion: The PHTS phenotypic diversity may partly be explained by the PTEN variant coding effect and the combination of coding effect and domain. PHTS patients with early-onset disease often had missense variants, and those with later-onset disease often truncating variants

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Implementierung und Vermarktungsansätze /-möglichkeiten für das Musik Community Programm Electronic Beats (von T-Mobile) in den Neuen Bundesländern und Polen

Diese wissenschaftliche Arbeit beschäftigt sich mit der Ausarbeitung von Vermarktungsansätzen, welche als Grundlage für eine erfolgreiche Vermarktung der Community Plattform Electronic Beats von T-Mobile in den neuen Bundesländern und in Polen dienen soll. Im Fokus der Bachelorarbeit stehen eine Betrachtung der Musikmärkte, die Konkurrenzanalyse, das Aufzeigen von positiven bzw. negativen Sachverhalten für die Implementierung und die Ausarbeitung der Kriterien für eine effiziente Vermarktung in den neuen Bundesländern und in Polen. Das Hauptaugenmerk der Arbeit richtet sich daher speziell auf die Marketingmöglichkeiten und deren spätere Umsetzungsvarianten aus. Beginnend sind die relevanten Fakten bezüglich T-Mobile International und Electronic Beats erläutert, um das Verständnis im Hauptteil dieser Arbeit, der Erstellung des auf Electronic Beats abgestimmten Marketingkonzeptes, zu unterstützen. Das Ziel dieser Arbeit ist die Darstellung diverser Vermarktungsansätze bezogen auf Electronic Beats, unter Berücksichtigung der gegebenen Märkte in den Neuen Bundesländern und in Polen, mit dessen Hilfe eine langfristige Etablierung und positive Imagewirkungen für T-Mobile International erreicht werden können. Schlussfolgernd soll aufgezeigt werden, ob sich eine Erschließung der Märkte in Polen und den Neuen Bundesländern für die Marke T-Mobile rentiert

Treatment of mycophenolate-resistant immune-related organizing pneumonia with infliximab

Abstract Background The development of pulmonary immune-related adverse events (irAEs) in patients undergoing PD-(L)1 targeted checkpoint inhibitors are rare, but may be life-threatening. While many published articles and guidelines are focusing on the presentation and upfront treatment of pulmonary irAEs, the strategy in patients with late-onset pneumonia that are resistant to commonly used immunosuppressive drugs remains unclear. Case presentation Here, we report the successful treatment of a mycophenolate-resistant organizing pneumonia (OP) with infliximab in a patient with metastatic melanoma after PD-1 blockade. The patient received two years of PD-1 targeted immunotherapy when he developed multiple nodular lung lesions mimicking a metastatic progression. However, wedge resection of these lesions showed defined areas of OP, which responded well to corticosteroids. Upon tapering, new foci of OP developed which were resistant to high-dose steroids and mycophenolate treatment. The TNFα antagonist infliximab led to a rapid and durable regression of the inflammatory lesions. Conclusion This case describes a not well-studied situation, in which a mycophenolate-resistant PD-1 blocker-associated pneumonitis was successfully treated with a TNFα neutralizing antibody. The outcome of this case suggests that infliximab might be the preferable option compared to classical immunosuppressants in the case of steroid-resistant/−dependent late onset pulmonary irAEs

Perceptions towards physical activity in adult lung transplant recipients with cystic fibrosis

BACKGROUND Barriers and motives towards physical activity (PA) in lung transplant (LTx) recipients with cystic fibrosis (CF) are largely unknown. We aimed to explore perceptions towards PA in LTx recipients with CF to better understand individuals' needs and preferences. METHODS Participants completed an online survey at two Swiss LTx and one follow-up shared care centre between June and December 2018. RESULTS One hundred and eleven individuals completed the survey (87.4% response rate). Overall, survey participants perceive PA as important for their daily life and health. Perceived motives of PA were improving muscle strength, endurance and quality of life (QoL), to feel better, fun, to achieve personal goals and having more energy for everyday life. Fatigue was the most common perceived barrier to PA and associated with poorer QoL (r = -0.43, p<0.001) and health status (r = -0.31, p = 0.001). Participants with lung allograft dysfunction (LAD, n = 20) reported lower habitual PA (p = 0.009) and health status (p = 0.011), and rated shortness of breath, bad weather and concerns regarding lung rejection higher than those without LAD (all p<0.05). When we asked how an optimal training programme should look like, the majority would prefer individual, non-supervised (60%), outdoor (77%), endurance training (90%), once or twice a week (47%) for 40-60 minutes (48%). Only a minority of patients (14%) would be willing to use exercise applications for their home-based training. CONCLUSIONS LTx recipients with CF value PA as important for their health. People with CF should be encouraged individually by their multidisciplinary transplant team to implement PA in their daily life, potential barriers should be identified and addressed. Overall, knowledge on perceived barriers and motives for PA should be considered in the development of future patient-centred PA programmes

“Exercise induced asthma” is not always asthma

A 25 year old woman was referred to our center for further evaluation of an exercise-induced dyspnea. Moreover, the patient suffered from hoarseness and recurrent sinusitis and otitis.After initially finding nothing suspicious, a spiro-ergometry was performed. Interestingly, we saw a relevant limitation of the inspiratory flow-volume curve under maximal exercise load. Further evaluation (in particular the bronchoscopy and the resulting biopsies) led us to the final diagnosis of a granulomatosis with polyangiitis.After 4 weeks of an established therapy regime with prednisone and rituximab the prior detected subglottic stenosis and the inspiratory flow-volume curve limitation could no longer detected.We describe a rare differential diagnosis of an exercise-induced asthma and we underline the importance of a multimodal therapy concept. We highlight the critical nature of the flow-volume curve in spiro-ergometry under maximal exercise load. We recommend frequent follow-up control visits to monitor the subglottic stenosis. Keywords: Asthma, Exercise induced, GP