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The ACMG/AMP guidelines include five categories of which variants of uncertain significance (VUSs) have received increasing attention. Recently, Fowler and Rehm claimed that all or most VUSs could be reclassified as pathogenic or benign within few years. To test this claim, we collected validated benign, pathogenic, VUS and conflicting variants from ClinVar and LOVD and investigated differences at
This paper presents a methodology for the assessment of time-dependent reliability of post-tensioned (PT) girders. As possible lack of consistent maintenance efforts and the constraints of economic and temporal resources become increasingly apparent, there is a need to comprehend their remaining service life, intricately tied to the gradual evolution of their reliability over time. In this study,
The service life of infrastructures is of high relevance for the provision of societal and industrial functionality and sustainability. Despite this high relevance, the service life is not explicitly considered of the design and operation procedures. Towards an efficient and sustainable service life management, this paper contains a description of approaches for service life limit quantification a
Warm Jupiters are ideal laboratories for testing the limitations of current tools for atmospheric studies. The cross-correlation technique is a commonly used method to investigate the atmospheres of close-in planets, leveraging their large orbital velocities to separate the spectrum of the planet from that of the star. Warm Jupiter atmospheres predominantly consist of molecular species, notably wa
Polymer gears are becoming more and more interesting parts of various machines; they are used in ever-more-demanding operating conditions. Due to their good mechanical properties, lightweight, and low noise during operation, they tend to substitute metallic gears in some traditional applications, and they also enter new applications such as e-bikes. A reliable design of polymer gears remains, to d
We present high spectral resolution observations of the hot Jupiter WASP-94 A b using the HARPS instrument on ESO’s 3.6-m telescope in La Silla, Chile. We probed for Na absorption in its atmosphere as well as constrained the previously reported misaligned retrograde orbit using the Rossiter–McLaughlin effect. Additionally, we undertook a combined atmospheric retrieval analysis with previously publ
Context. The spectra of fast-rotating A-type stars have strongly broadened absorption lines. This effect causes blending of the absorption lines, hindering the measurement of the abundances of the elements that are in the stellar photosphere.Aims. As the exoplanet transits across its host star, it obscures the stellar spectrum that is emitted from directly behind the planet. We aim to extract this
Context. Ultra-hot Jupiters (UHJ) have emerged as ideal testbeds for new techniques for studying exoplanet atmospheres. Only a limited number of them are currently well studied, however.Aims. We search for atmospheric constituents for the UHJ WASP-178 b with two ESPRESSO transits. Additionally, we show parallel photometry that we used to obtain updated and precise stellar, planetary, and orbital p
OBJECTIVE: Durable and stable phantoms for verifying and validating the new magnetomotive ultrasound technique are lacking. Here we propose a phantom design to address this need.METHODS: A mixture of styrene-butylene/ethylene-styrene (SEBS) in mineral oil and glass beads as a scattering material acted as a bulk material, in which a polyvinyl alcohol (PVA) inclusion containing magnetic nanoparticle
Magnetomotive Ultrasound, MMUS, is an imaging modality used to reveal a magnetic contrast agent using an external time-varying inhomogeneous magnetic field. By this, the particles are set in motion, and the motion is detected with ultrasound. The technique has applications in cancer detection but is limited in penetration as the magnetic field decreases rapidly with distance. Instead of increasing
The design of polymer gears is an open challenge; several constraints must bechecked during the design process due to the complex relations between different design parameters and specifics of application. The failure modes are determined by the load level, used material pair, and operating conditions—speed of rotation, environment temperature, and lubrication. Polymer gear design is not a straigh
To meet climate targets, expanding Populus spp. tree cultivation is proposed as a potential biomass feedstock, especially on agricultural land that does not come into conflict with food production. However, biomass potential assessments typically overlook landowners' perspectives, risking a gap between theoretical potentials and realisation. Here, we test empirical consequences of two hypotheses b
Product design requirements are becoming more and more complex, while the number of available materials is increasing. Polymeric materials are still dominant in many applications, replacing other manufacturing materials. Gears are one of the mechanical parts that are increasingly made of plastic. To effectively replace metal materials, the design process and product material must meet all applicat
The book serves as a comprehensive and professional guide on polymer gears design and production. It provides the reader withan overview of the current developments in the field composite materials, testing, and applications of polymer gears. This includesmaterial development, tribological properties, simulations, and processing methods.Due to their efficient mechanical properties, light weight, a
AIM OF THE STUDY: to investigate the incidence of non-mapped isolated metastatic pelvic lymph nodes at pre-defined anatomical positions.PATIENTS AND METHODS: Between June 2019 and January 2024, women with uterine-confined endometrial cancer (EC) deemed suitable for robotic surgery and the detection of pelvic sentinel nodes (SLNs) were included. An anatomically based, published algorithm utilizing
AIM: To evaluate the locations of metastatic pelvic sentinel nodes (SLN) and the proportion of SLNs outside and within defined typical anatomical positions along the upper paracervical lymphatic pathway (UPP).PATIENTS AND METHODS: Consecutive women with endometrial cancer (EC) of all risk groups underwent pelvic SLN-detection using cervically injected indocyanine green (ICG). A strict anatomically
Four directional and positional variants of sulfonamide-derivatized galactopyranosides were synthesized and evaluated against human galectin-1, -3, -4C (C-terminal), -7, -8N (N-terminal), -8C (C-terminal), -9N (N-terminal), and -9C (C-terminal), which revealed that one of the sulfonamide positions and directionalities (methyl 3-{4-[2-(phenylsulfonylamino)-phenyl]-triazolyl}-3-deoxy-α-D-galactopyra
Despite the immense importance of enzyme-substrate reactions, there is a lack of general and unbiased tools for identifying and prioritizing substrate proteins that are modified by the enzyme on the structural level. Here we describe a high-throughput unbiased proteomics method called System-wide Identification and prioritization of Enzyme Substrates by Thermal Analysis (SIESTA). The approach assu
Protein ADP-ribosylation is a reversible post-translational modification that regulates important cellular functions. The identification of modified proteins has proven challenging and has mainly been achieved via enrichment methodologies. Random mutagenesis was used here to develop an engineered Af1521 ADP-ribose binding macro domain protein with 1000-fold increased affinity towards ADP-ribose. T
