bluuebunny/crossref_metadata_2025_split huggingface dataset:
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
Authors: Møller Nanna Bæk , Boonen Desirée Sofie , Feldner Elisabeth Simone , Hao Qin , Larsen Martin , Lænkholm Anne-Vibeke , Borg Åke , Kvist Anders , Törngren Therese , Jensen Uffe Birk , Boonen Susanne Eriksen , Thomassen Mads , Terkelsen Thorkild 
Published: May 2023

AbstractBOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, ATM, BARD1, RAD51C and RAD51D. To validate its predictions for these genes, we conducted a retrospective study including 2033 individuals counselled at clinical genetics departments in Denmark. All counselees underwent comprehensive genetic testing by next generation sequencing on suspicion of hereditary susceptibility to BC/OC. Likelihoods of PVs were predicted from information about diagnosis, family history and tumour pathology. Calibration was examined using the observed-to-expected ratio (O/E) and discrimination using the area under the receiver operating characteristics curve (AUC). The O/E was 1.11 (95% CI 0.97–1.26) for all genes combined. At sub-categories of predicted likelihood, the model performed well with limited misestimation at the extremes of predicted likelihood. Discrimination was acceptable with an AUC of 0.70 (95% CI 0.66–0.74), although discrimination was better for BRCA1 and BRCA2 than for the other genes in the model. This suggests that BOADICEA remains a valid decision-making aid for determining which individuals to offer comprehensive genetic testing for hereditary susceptibility to BC/OC despite suboptimal calibration for individual genes in this population.
Ultraschallgeführte lokalablative Verfahren zur Behandlung von Schilddrüsenläsionen
Authors: Richter Johannes-Paul , Richter Carl-Philip , Gröner Daniel 
Published: May 2023

ZusammenfassungUltraschallgeführte lokalablative Verfahren kommen als Ergänzung zur chirurgischen Therapie und Radiojodtherapie zunehmend in der Routinebehandlung von Schilddrüsenknoten zur Anwendung. Bei rein zystischen und überwiegend zystischen Herdbefunden liegen gute Erfahrungen mit der Instillationstherapie (Ethanol-/Polidocanol-Ablation) vor. Die neueren thermoablativen Techniken, zu denen die Radiofrequenzablation (RFA), die Mikrowellenablation (MWA), die Laserablation (LA) und der hochintensive fokussierte Ultraschall (HIFU) zählen, erreichen mittels Temperaturen von über 60 °C eine lokale Proteindenaturierung im Zielareal. Unter permanenter Ultraschallkontrolle kann so selektiv die Volumenreduktion lokal symptomatischer oder fokal hyperfunktioneller Befunde zur Erlangung von Beschwerdefreiheit induziert werden. Während bereits vielfältige Evidenz für die effektive und sichere Anwendung verschiedener lokalablativer Techniken geschaffen werden konnte, liegen künftige Herausforderungen in der Initiierung komparativer prospektiver Studien sowie standardisierter Curricula zur Schulung und kontinuierlichen Qualitätssicherung. Ferner wird es zukünftig angezeigt sein, die in Deutschland bei Patienten mitunter noch wenig bekannten lokalablativen Techniken im Aufklärungsgespräch als etablierte Alternative oder Ergänzung zu bestehenden Therapieformen anzuführen.
Ticket to Germany
Authors: Jäger Simon , Herlach Stephanie 
Published: May 2023

ZusammenfassungPflegekräfte aus dem Ausland sind für viele Einrichtungen existenzsichernde Bausteine in der Gesamtstrategie geworden, um dem Fachkräftemangel zu begegnen. Erfahren Sie hier, wie ein zeitgemäßes und erfolgreiches Anwerben im Ausland funktionieren kann.
Gefangen im Default Mode Network?
Authors: Hertlein Margit 
Published: May 2023

ZusammenfassungDas Gehirn funktioniert nicht immer so, wie wir es uns wünschen. Kopfkino und die innere Stimme funken manchmal unpassend dazwischen. Aber: Wir haben es selbst in der Hand, das richtige neuronale Netwerk zu aktivieren und so entspannt und leistungsfähig zu sein.
Trainingsziele und Risikokategorisierung im Spannungsfeld
körperliches Training und Frakturprophylaxe: Ansatzpunkte für
individualisierte Trainingsprogramme
Authors: Mohebbi Ramin , von Stengel Simon , Kohl Matthias , Jakob Franz , Kerschan-Schindl Katharina , Lange Uwe , Peters Stefan , Schöne Daniel , Thomasius Friederike , Becker Clemens , Kladny Bernd , Kemmler Wolfgang 
Published: May 2023

ZusammenfassungDie Definition von relevanten Trainingszielen und deren weitgehend
individualisierte Allokation zu Gruppen unterschiedlicher Anforderungen sollte
der erste Schritt einer jeden Trainingsstrategie zur optimierten
Trainingsplanung und sicheren Trainingsdurchführung sein. Die Festlegung
der Trainingsziele im Bereich der Frakturprophylaxe orientiert sich eng an den
Frakturdeterminanten „Knochenfestigkeit“,
„Sturzhäufigkeit“ und „Sturzimpact“, die
für die unterschiedlichen (Fraktur-)Risikokollektive jeweils
unterschiedliche Relevanz aufweisen. Für (1) Personen mit
erhöhtem Knochenumbau oder mässiggradiger Verringerung
(Osteopenie) sowie (2) Personen deutlicher Verringerung der Knochendichte
(Osteoporose) ohne Frakturen und ohne relevant erhöhtes Sturzrisiko sind
Erhalt/Erhöhung der Knochenfestigkeit das primäre
Trainingsziel. Bei (3) Personen mit Osteoporose, ohne einschlägige
Frakturen aber mit relevant erhöhtem Sturzrisiko und (4) Personen mit
Osteoporose-assoziierten Frakturen und multiplen Sturzrisikofaktoren gewinnen
die Trainingsziele „Reduktion der Sturzhäufigkeit“ und
„Verbesserung des Sturzablaufes“ zunehmend an Bedeutung. Bei (5)
Personen mit multiplen Osteoporose-assoziierten Frakturen, hohem Sturzrisiko und
sehr geringer körperlicher Leistungsfähigkeit ist die Bedeutung
der Knochenfestigkeit als Trainingsziel vernachlässigbar, nicht zuletzt
da die unmittelbare Verordnungsfähigkeit einer pharmakologischen
Therapie besteht. Zusammenfassend ist eine individualisierte Zuweisung von
Trainingszielen hochrelevant und leistet einen entscheidenden Beitrag zur
Erstellung optimierter Trainingsprotokolle zur Frakturprävention.
Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn
Authors: Shirozu Hiromitsu , Ichiyama Masako , Ishimura Masataka , Ayako Kuraoka , Egami Naoki , Dongchon Kang , Nakano Toshihide , Sagawa Koichi , Ohga Shouichi 
Published: May 2023

AbstractDuctus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase (MTHFR) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.
Optimal trajectory planning of a small UAV using solar energy and wind energy
Authors: Chen Jie , Shi Zhiwei , Geng Xi , Sun Qijie , Sun Quanbing , Yin Zhenquan 
Published: May 2023

Due to size limitations and the working environment near the ground, small low-altitude unmanned aerial vehicles (UAVs) cannot carry large-area solar cells and energy storage devices. Solar energy alone has only a limited effect on the improvement of their endurance. To solve this problem, this study proposes the combination of solar energy technology and dynamic soaring technology to improve the endurance of small UAVs. Then, the optimal energy acquisition strategy based on the combination of solar energy and dynamic soaring technology is analyzed in terms of energy. The motion equations and energy acquisition and consumption models of a small solar UAV based on horizontal wind shear are established. Moreover, an optimal trajectory planning problem with the maximum charging power of rechargeable batteries as the optimization objective is proposed. The optimal trajectory is solved based on the hp adaptive pseudo-spectral method, and the optimal trajectory combining the two technologies is simulated and compared with the constant-altitude constant-velocity (CACV) trajectory of the UAV using only solar technology. The simulation results show that under the flight background of tmission = 6:00 (summer sunrise) and β = 0.125 s−1 (wind gradient of the wind shear), the optimized O-type trajectory decreased the energy consumption power by 39.86% and increased the solar energy acquisition power by 86.34% compared to the CACV trajectory. Consequently, the small UAV stores more energy in the rechargeable batteries to improve the endurance performance. Compared to the environment where the sun is located on the leeward side of the wind shear, the environment where the sun is located on the windward side of the wind shear can enable the UAV to acquire more energy through the optimized O-type trajectory.
From the personal and private to the community and public
Authors: Dreyfus Shoshana 
Published: May 2023

Abstract
This paper reports on the adaptation of Sydney School genre pedagogy’s Teaching Learning Cycle for the design of a workshop that aims to encourage disability support workers and their managers to think more expansively about the people with intellectual disabilities they work with and support. The paper introduces the pedagogy and its theoretical underpinnings as well as the two fields of knowledge that are drawn on in the workshop: person-centred care and positive behaviour support. It then details the design and implementation of the workshops and finishes with some evidence of the workshop’s initial impact on workers and the disability organisation’s support of people living with disability.
Structure markers
Authors: Martin J. R. , Doran Y. J. 
Published: May 2023

Abstract
In this paper we revisit the association of types of structure with modes of meaning in systemic functional
linguistics (SFL). Focusing mainly on nominal group grammar, we argue that the association of experiential structure with
non-recursive systems realised by multivariate structures and logical structure with recursive systems realised by univariate
structures needs to be relaxed – in recognition of dependency structures consisting of two elements in a head/dependent relation.
We refer to such structures as subjacency duplexes and explore their potential for the analysis of what are often dismissed in SFL
as structure markers – adpositions, linkers and binders in particular.
Recent advances in nanostructured substrates for surface-enhanced infrared absorption spectroscopy
Authors: Wang Jikai , Zeng Pengfei , Xiao Xilin , Zhou Cheng , Wei Hua , Yu Cuiyun 
Published: May 2023

Abstract
Surface-enhanced infrared absorption (SEIRA) spectroscopy is an emerging research field that has received much attention from the research community. Unlike conventional infrared absorption spectroscopy, SEIRA spectroscopy is a surface sensitive technique that exploits the electromagnetic properties of nanostructured substrates to amplify the vibrational signals of adsorbed molecules. Unique advantages like high sensitivity, wide adaptability, and convenient operation allow SEIRA spectroscopy to be applied in qualitative and quantitative analyses for traces of gases, biomolecules, polymers, and so on. In this review, we summarize recent advances in nanostructured substrates for SEIRA spectroscopy, including the developing history and widely accepted SEIRA mechanisms of SEIRA spectroscopy. Most importantly, characteristics and preparation methods of representative SEIRA-active substrates are introduced. In addition, current deficiencies and prospects in the field of SEIRA spectroscopy are discussed.
Obtaining, crystal structure and nanostructure of Ba2NdFeNb4O15 heteroepitaxial films fabricated by RF sputtering on MgO(001) substrates
Authors: Stryukov D V , Pavlenko A V , Matyash Ya Yu , Nazarenko A V 
Published: May 2023

Abstract
The high quality Ba2NdFeNb4O15 epitaxial films with thicknesses varying from 10 nm to 1 μm have been fabricated by RF cathode sputtering. The films were characterized by the formation of orientational domains with 18.4° in-plane rotation and tetragonal unit cell. The films have a smooth surface, while the presence of orientational domains does not manifest itself in any way on the surface relief. The obtained films have no magnetic response due to the absence of magnetic inclusions of barium hexaferrite. The absence of any impurities has been confirmed by x-ray diffraction, atomic force microscopy and energy dispersive elemental analysis.
Inflation and dark matter in the Z
5 model
Authors: Qi XinXin , Sun Hao 
Published: May 2023

Abstract
We discuss the possibility of unifying dark matter physics and inflation in the Z
5
model of the two-component dark matter. Inflation driven by the two-component dark matter fields
can be divided into two cases, singlet dark matter inflation and mixed dark matter inflation,
where both two-component play the role of inflaton in the latter case. For dark matter, we focus
on the mixed dark matter inflation case. We show a viable parameter space that satisfies the
theoretical and dark matter relic density constraint in the case of successful inflation. It turns
out that the dark matter density is dominated by the light component, which is consistent with the
feature of the Z
5 model of the two-component dark matter.
Updated constraints on primordial black hole evaporation
Authors: Korwar Mrunal , Profumo Stefano 
Published: May 2023

Abstract
The Hawking evaporation process, leading to the production of detectable particle species, constrains the abundance of light black holes, presumably of primordial origin. Here, we reconsider and correct constraints from soft gamma-ray observations, including of the gamma-ray line, at 511 keV, produced by electron-positron pair-annihilation, where positrons originate from black hole evaporation. First, we point out that the INTEGRAL detection of the Large Magellanic Cloud provides one of the strongest bounds attainable with present observations; and that future MeV gamma-ray telescopes, such as GECCO, will greatly enhance such constraints. Second, we discuss issues with previous limits from the isotropic flux at 511 keV and we provide updated, robust constraints from recent measurements of the diffuse Galactic soft gamma-ray emission and from the isotropic soft gamma-ray background.
LDER: a classification framework based on ERP enhancement in RSVP task
Authors: Cui Yujie , Xie Songyun , Xie Xinzhou , Zheng Dalu , Tang Hao , Duan Keyi , Chen Xiaotao , Jiang Yiye 
Published: May 2023

Abstract

Objective. Rapid serial visual presentation (RSVP) based on electroencephalography (EEG) has been widely used in the target detection field, which distinguishes target and non-target by detecting event-related potential (ERP) components. However, the classification performance of the RSVP task is limited by the variability of ERP components, which is a great challenge in developing RSVP for real-life applications. Approach. To tackle this issue, a classification framework based on the ERP feature enhancement to offset the negative impact of the variability of ERP components for RSVP task classification named latency detection and EEG reconstruction was proposed in this paper. First, a spatial-temporal similarity measurement approach was proposed for latency detection. Subsequently, we constructed a single-trial EEG signal model containing ERP latency information. Then, according to the latency information detected in the first step, the model can be solved to obtain the corrected ERP signal and realize the enhancement of ERP features. Finally, the EEG signal after ERP enhancement can be processed by most of the existing feature extraction and classification methods of the RSVP task in this framework. Main results. Nine subjects were recruited to participate in the RSVP experiment on vehicle detection. Four popular algorithms (spatially weighted Fisher linear discrimination-principal component analysis (PCA), hierarchical discriminant PCA, hierarchical discriminant component analysis, and spatial-temporal hybrid common spatial pattern-PCA) in RSVP-based brain–computer interface for feature extraction were selected to verify the performance of our proposed framework. Experimental results showed that our proposed framework significantly outperforms the conventional classification framework in terms of area under curve, balanced accuracy, true positive rate, and false positive rate in four feature extraction methods. Additionally, statistical results showed that our proposed framework enables better performance with fewer training samples, channel numbers, and shorter temporal window sizes. Significance. As a result, the classification performance of the RSVP task was significantly improved by using our proposed framework. Our proposed classification framework will significantly promote the practical application of the RSVP task.
Quantum quenches in the sinh-Gordon and Lieb–Liniger models
Authors: Salvo Emanuele Di , Schuricht Dirk 
Published: May 2023

Abstract
The non-relativistic limit of integrable field theories at equilibrium has been intensively studied in the previous years; the simplest non-trivial case relates the sinh-Gordon model to the Lieb–Liniger model (LLM). Here we study this non-relativistic limit out of equilibrium, namely in the time evolution after a quantum quench. The obtained results agree with the known ones for the LLM, thus showing that the non-relativistic limit is applicable in this out-of-equilibrium setting.
Accurate RBF-FD meshless numerical simulation of thermo-fluid problems for generic 3D geometries
Authors: Zamolo Riccardo , Miotti Davide , Nobile Enrico 
Published: May 2023

Abstract
In contrast to traditional mesh-based methods for the numerical solution of boundary value problems, e.g., Finite Element (FEM) and Finite Volume (FVM), in the recent period many meshfree approaches have been proposed in order to avoid those typical issues due to the mesh. For example, the quality of the mesh greatly affects the reliability of the final solution in the case of CFD problems and the human intervention of a professional is often still needed when dealing with complex-shaped domains. This in turn increases both cost and time required for the reliable simulation of problems of engineering relevance. Meshless methods, on the other side, usually rely on a simpler distribution of nodes and do not require the storage of connectivity information. Among others, one of the most promising meshless methods in terms of accuracy and flexibility is the one based on the Radial Basis Function – Finite Difference (RBF-FD) scheme. RBF-FD methods, however, are usually affected by severe ill conditioning issues when Neumann boundary conditions are employed. This fact is the main responsible for the appearance of large discretization errors near the boundary and for the lack of stability of traditional time integration schemes. In order to address this issue, some new algorithms for the robust treatment of boundary conditions have been developed and successfully employed to solve fluid flow problems with heat transfer. Furthermore, it is well acknowledged that the efficient resolution of boundary layers arising in this class of problems requires an adequate spatial discretization in the neighbourhood of the boundary, i.e., increased node/mesh density along the direction of large gradients only. This result is achieved by employing anisotropic node distributions, which is a novelty in the context of the RBF-FD method to the best of the authors’ knowledge. The method described above is successfully employed for the accurate solution of a representative 3D heat transfer problem with incompressible fluid flow.
Experiments of convective evaporation of refrigerant R513A in a horizontal stainless-steel tube
Authors: Arcasi A , Mastrullo R , Mauro A W , Passarelli A F , Viscardi I 
Published: May 2023

Abstract
Refrigerant R513A represents an interesting solution for the retrofit of conventional high-GWP fluorinated gases, such as R134a, R401A, R401B and R409A for low and medium temperature applications. R513A is an azeotropic mixture (almost zero-temperature glide at any operating pressure) made up of R134a and R1234yf (44% and 56% in mass, respectively), allowing at the same time a very low GWP of 580 and favourable safety characteristics such as no flammability and no toxicity (A1 ASHRAE class). The boiling performance of this blend is scarcely explored and studied in scientific literature, especially in case of commercial tubes typically adopted for refrigeration purposes. For this reason, this paper presents two-phase flow boiling experiments of refrigerant R513A in a 6.00 mm horizontal stainless-steel tube. Heat is provided by means of Joule effect directly on the tube surface, and the peripheral average heat transfer coefficients are obtained by measuring the temperatures at four sides (top, bottom, left and right) of the channel. The effect of the operating conditions is experimented and discussed, by varying the mass flux between 150 and 300 kg/m2 s, saturation temperature between 20 and 50°C and imposed heat flux between 5 and 20 kW/m2. Also, a comparison with the boiling performance of refrigerant R134a is proposed within the same operating conditions. Finally, the assessment of well-known flow boiling prediction methods is presented and discussed.
Safety of Streptococcus pyogenes Vaccines: Anticipating and Overcoming Challenges for Clinical Trials and Post-Marketing Monitoring
Authors: Asturias Edwin J , Excler Jean-Louis , Ackland James , Cavaleri Marco , Fulurija Alma , Long Raj , McCulloch Mignon , Sriskandan Shiranee , Sun Wellington , Zühlke Liesl , Kim Jerome H , Dale James B , Steer Andrew C 
Published: May 2023

Abstract
Streptococcus pyogenes (Strep A) infections result in a vastly underestimated burden of acute and chronic disease globally. The Strep A Vaccine Global Consortium’s (SAVAC’s) mission is to accelerate the development of safe, effective, and affordable S. pyogenes vaccines. The safety of vaccine recipients is of paramount importance. A single S. pyogenes vaccine clinical trial conducted in the 1960s raised important safety concerns. A SAVAC Safety Working Group was established to review the safety assessment methodology and results of more recent early-phase clinical trials and to consider future challenges for vaccine safety assessments across all phases of vaccine development. No clinical or biological safety signals were detected in any of these early-phase trials in the modern era. Improvements in vaccine safety assessments need further consideration, particularly for pediatric clinical trials, large-scale efficacy trials, and preparation for post-marketing pharmacovigilance.