Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?

Background: Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced excretion and consequently excessive accumulation of copper in different organs, such as the heart. Results: In a prospective controlled trial, which is the largest to date, we evaluated 61 patients with Wilson’s disease, age- and sex-matched to 61 healthy patients, for cardiac manifestation using cardiac magnetic resonance imaging. Patients were under stable disease and had no signs of heart failure at the time of examination. We detected a left ventricular cleft, an invagination penetrating more than 50% wall thickness of the adjoining compact myocardium in diastole, in 20% of the patients (12 out of 61) compared to 5% among control patients (3 out of 61, p = 0.013). No correlation between the incidence of cleft and a certain genotype of Wilson’s disease was found. All described cases were incidental findings and none of the patients showed other signs of cardiac involvement. Conclusions: To conclude, the results of this study suggests that the increased occurrence of left ventricular clefts is due to Wilson’s disease. Large studies with a long observation period are needed for further evaluation

Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center

Purpose Hereditary breast and ovarian cancer has long been established to affect a considerable number of patients and their families. By identifying those at risk ideally before they have been diagnosed with breast and/or ovarian cancer, access to preventive measures, intensified screening and special therapeutic options can be obtained, and thus, prognosis can be altered beneficially. Therefore, a standardized screening and counseling process has been established in Germany under the aegis of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). As one of these specialized clinics, the HBOC-Center at Charite offers genetic counseling as well as genetic analysis based on the GC-HBOC standards. This analysis aims first at depicting this process from screening through counseling to genetic analysis as well as the patient collective and second at correlating the results of genetic analysis performed. Thus, real-world data from an HBOC-Center with a substantial patient collective and a high frequency of pathogenic variants in various genes shall be presented. Methods The data of 2531 people having been counseled at the HBOC-Center at Charite in 2016 and 2017 were analyzed in terms of patient and family history as well as pathogenic variants detected during genetic analysis with the TruRisk (R) gene panel when genetic analysis was conducted. This standardized analysis is compiled and regularly adjusted by the GCHBOC. The following genes were included at time of research: BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, RAD51C, RAD51D, NBN, and TP53. Results Genetic analysis was conducted in 59.8% of all cases meeting the criteria for genetic analysis and 286 pathogenic variants were detected among 278 (30.3%) counselees tested using the TruRisk (R) gene panel. These were primarily found in the genes BRCA1 (44.8%) and BRCA2 (28.3%) but also in CHEK2 (12.2%), ATM (5.6%) and PALB2 (3.5%). The highest prevalence of pathogenic variants was seen among the families with both ovarian and breast cancer (50.5%), followed by families with ovarian cancer only (43.2%) and families with breast cancer only (35.6%)-these differences are statistically significant (p < 0.001). Considering breast cancer subtypes, the highest rate of pathogenic variants was detected among patients with triple-negative breast cancer (40.7%) and among patients who had had been diagnosed with triple-negative breast cancer before the age of 40 (53.4%)-both observations proved to be statistically significant (p = 0.003 and p = 0.001). Conclusion Genetic counseling and analysis provide the foundation in the prevention and therapy of hereditary breast and ovarian cancer. The rate of pathogenic variants detected is associated with family history as well as breast cancer subtype and age at diagnosis, and can reach considerable dimensions. Therefore, a standardized process of identification, genetic counseling and genetic analysis deems mandatory

Web-based patient-reported outcomes using the International Consortium for Health Outcome Measurement dataset in a major German university hospital: observational study

Background: Collecting patient-reported outcome (PRO) data systematically enables objective evaluation of treatment and its related outcomes. Using disease-specific questionnaires developed by the International Consortium for Health Outcome Measurement (ICHOM) allows for comparison between physicians, hospitals, and even different countries. Objective: This pilot project aimed to establish a digital system to measure PROs for new patients with breast cancer who attended the Charité Breast Center. This approach should serve as a blueprint to further expand the PRO measurement to other disease entities and departments. Methods: In November 2016, we implemented a Web-based system to collect PRO data at Charité Breast Center using the ICHOM dataset. All new patients at the Breast Center were enrolled and answered a predefined set of questions using a tablet computer. Once they started their treatment at Charité, automated emails were sent to the patients at predefined treatment points. Those emails contained a Web-based link through which they could access and answer questionnaires. Results: By now, 541 patients have been enrolled and 2470 questionnaires initiated. Overall, 9.4% (51/541) of the patients were under the age of 40 years, 49.7% (269/541) between 40 and 60 years, 39.6% (214/541) between 60 and 80 years, and 1.3% (7/541) over the age of 80 years. The average return rate of questionnaires was 67.0%. When asked about the preference regarding paper versus Web-based questionnaires, 6.0% (8/134) of the patients between 50 and 60 years, 6.0% (9/150) between 60 and 70 years, and 12.7% (9/71) over the age of 70 years preferred paper versions. Conclusions: Measuring PRO in patients with breast cancer in an automated electronic version is possible across all age ranges while simultaneously achieving a high return rate

Laser-based monitoring and removal of space debris

Owing to the extended use of space since the first launch of a satellite in 1957, an increasing number of remnants of on-orbit collisions, explosions and defunct satellites are circulating at high population density on important LEO and GEO orbits. Due to the velocities of these objects, even small particles impose significant risk for space assets. While larger LEO objects are permanently tracked by radar, barely any information is available on the orbits of objects at a size range of 1 cm to 10 cm. Hence, an effective and precise determination of exact orbital data is a prerequisite for collision risk mitigation and future removal approaches. In this talk, the concept of a laser-based monitoring system for LEO space debris will be presented and the feasibility of space debris removal employing high energy lasers will be discussed. Such a monitoring system offers various advantages and complements the current state-of-the-art detection with radar systems and passive optical observation. All parameters influencing the detection approach are considered, including the propagation of laser beams through turbulent atmosphere, scattering characteristics of the debris objects, and the required pulse energy of the laser used for time-of-flight ranging. These system parameters will be verified by scaled on-ground experiments. Our development goal is a monitoring platform including a 1 kHz repetition rate laser of 1 J pulse energy, which allows for the demonstration of technical feasibility of the discussed approach and stimulates further activities

Laser-based ranging and tracking of space debris

Space debris imposes reasonable risk on present space missions, as these objects hold relative velocities on the order of 10 km/s. Due to their high kinetic energies, objects up from 1 cm size have to be monitored in order to prevent collisions with satellites. Since the number of objects within this risk category is reasonable high, an ac-curate and effective monitoring system is necessary. Here, we present a concept for a laser-based space debris monitoring system. The chosen approach combines passive optics (to detect non-catalogued objects) and laser-based active optics (to fine-track and range the debris objects). The involved physical processes affecting such approach such as optical turbulence, absorption, and scattering are modelled and the results will define the de-sign of a future system. In addition, short range on-ground tracking and ranging will be conducted. The aim is to simulate the strong signal attenuation by downscaling of photon densities in order to prove system feasibility

Bahnbestimmung von Weltraumschrott mit Lasern

Wir stellen ein Konzept zur Erfassung von Weltraumschrott-Objekten vor, welches auf dem Einsatz von lasergestützten aktiv-optischen Methoden beruht. Der niedrige Erdorbit (low earth orbit - LEO) weist bei einer Höhe von 900 km und 1400 km Maxima der räumlichen Dichte von Weltraumschrott-Objekten auf. Im Allgemeinen wird angenommen, dass die Lebenszeit von operablen Systemen bei einem Einschlag von Objekten ab einer Größe von 1 cm beendet wird. Aufgrund der großen Anzahl der Objekte dieser Gefährdungsklasse (ca. 6∙105) ist ein effektives und hochgenaues System zur Erfassung von Weltraumschrott unabdingbar, um (i) Weltraummissionen sicher durchführen und (ii) die kalkulierte Lebensdauer von Satelliten durch das Vermeiden von unnötigen Ausweichmanövern erreichen zu können. Dazu wird ein Konzept zur Bestimmung der Bahnelemente von Weltraumschrott vorgestellt, welches auf der Kombination von passiv-optischen Methoden (zum Auffinden unbekannter Objekte) mit laserbasierten aktiv-optischen Methoden (zum Fein-Tracking und zur Abstandsmessung) basiert. Dabei werden zur Systemauslegung alle involvierten physikalischen Prozesse bei der Untersuchung optisch unkooperativer Zielobjekte mit einer Bahnhöhe von etwa 1000 km modelliert. Die Ergebnisse bilden die Skalierungsgrößen, um den Funktionsnachweis des Konzepts zur laserbasierten Erfassung von Weltraumschrott in Experimenten auf der institutseigenen Laser-Freistrahlstrecke in Lampoldshausen zu erbringen