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Background: The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real-life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity. Methods: We tested for monogenic obesity (genes: LEPR, POMC, ADCY3, PCSK1, CARTPT, SIM1, MRAP2, LEP, NTRK2, BDNF, KSR2, MAGEL2, SH2B1, MC
Prostate Cancer Diagnosis and Treatment Enhancement through the Power of Big Data in Europe (PIONEER) is a European network of excellence for big data in prostate cancer. PIONEER brings together 34 private and public stakeholders from 9 countries in one multidisciplinary research consortium with the aim of positively transforming the field of prostate cancer clinical care by answering pressing que
Charged-particle jet yields have been measured in semicentral Pb–Pb collisions at center-of-mass energy per nucleon–nucleon collision sNN=5.02 TeV with the ALICE detector at the LHC. These yields are reported as a function of the jet transverse momentum, and further classified by their angle with respect to the event plane and the event shape, characterized by ellipticity, in an effort to study th
In the last decades, the development of high-throughput molecular assays has revolutionised cancer diagnostics, paving the way for the concept of personalised cancer medicine. This progress has been driven by the introduction of such technologies through biomarker-driven oncology trials. In this review, strengths and limitations of various state-of-the-art sequencing technologies, including gene p
The PHENIX experiment has performed a systematic study of identified charged-hadron (π±, K±, p, p¯) production at midrapidity in p+Al, He3+Au, and Cu+Au collisions at sNN=200GeV and U+U collisions at sNN=193GeV. Identified charged-hadron invariant transverse-momentum (pT) and transverse-mass (mT) spectra are presented and interpreted in terms of radially expanding thermalized systems. The particle
Measurements of the pT-dependent flow vector fluctuations in Pb-Pb collisions at sNN=5.02TeV using azimuthal correlations with the ALICE experiment at the Large Hadron Collider are presented. A four-particle correlation approach [ALICE Collaboration, Phys. Rev. C 107, L051901 (2023)2469-998510.1103/PhysRevC.107.L051901] is used to quantify the effects of flow angle and magnitude fluctuations separ
We report the spectroscopic confirmation and fundamental properties of TOI−757 b, a mini−Neptune on a 17.5−d orbit transiting a bright star (V = 9.7 mag) discovered by the TESS mission. We acquired high−precision radial velocity measurements with the HARPS, ESPRESSO, and PFS spectrographs to confirm the planet detection and determine its mass. We also acquired space−borne transit photometry with t
Introduction: Anxiety disorders are common and debilitating in children and adolescents. Cognitive behavioral therapy (CBT), delivered both in-person and by the internet (ICBT), is efficacious, but access for young individuals is limited and it remains unclear how to structure the care pathway to maximize benefit.Methods: To inform a fully powered randomized controlled trial (RCT), a pilot RCT wil
This work aims to differentiate strangeness produced from hard processes (jetlike) and softer processes (underlying event) by measuring the angular correlation between a high-momentum trigger hadron ((Formula presented)) acting as a jet proxy and a produced strange hadron [(Formula presented) meson]. Measuring (Formula presented) correlations at midrapidity in (Formula presented)-Pb collisions at
The AU Microscopii planetary system is only 24 Myr old, and its geometry may provide clues about the early dynamical history of planetary systems. Here, we present the first measurement of the Rossiter–McLaughlin effect for the warm sub-Neptune AU Mic c, using two transits observed simultaneously with the European Southern Observatory’s (ESO’s) Very Large Telescope (VLT)/Echelle SPectrograph for R
This paper presents the results from a qualitative study with Swedish researchers in the social sciences and the humanities. The aim of the study was to explore researchers’ perceptions of ethical review (i.e. the pros and cons of the system) and to what extent the system of ethical review could possibly be reformed to better accommodate research in the social sciences and the humanities. To this
The Review summarizes much of particle physics and cosmology. Using data from previous editions, plus 2,717 new measurements from 869 papers, we list, evaluate, and average measured properties of gauge bosons and the recently discovered Higgs boson, leptons, quarks, mesons, and baryons. We summarize searches for hypothetical particles such as supersymmetric particles, heavy bosons, axions, dark ph
The co-constitution of social media and the Symbolic Order – the system of norms, law, culture, and language conditioning intersubjectivity – has generated an unprecedented political ontology marked by commodified performativity under neoliberalism. This ontology displaces the experience of the political in favour of its consumption as a spectacle. This spectacle expedites the misrecognition of fa
Timely diagnosis of type 1 diabetes (T1D), especially in high-risk populations, is crucial for preventing serious health complications. T1D is a chronic progressive autoimmune disease that has presymptomatic stages that can be identified through the detection of islet autoantibodies. Given that T1D is associated with other autoimmune diseases, having either those diseases or a family history of th
Understanding variation in survival and reproduction is key for conservation and management of bird populations. By compiling and analysing data on hatching success (i.e. proportion of nests with at least one hatched egg) from Common Eider Somateria m. mollissima, Velvet Scoter Melanitta fusca and Red-breasted Merganser Mergus serrator, all breeding on a single island in the Baltic Sea, we demonst
Previous research in various educational areas has shown that literary texts have much to contribute through offering perspectives, contexts, and ways of presenting content. The present study has a particular focus on science education. The purpose of science education is under debate, and research as well as large-scale frameworks such as PISA increasingly highlight student agency and action comp
A study of strange hadron production associated with hard scattering processes and with the underlying event is conducted to investigate the origin of the enhanced production of strange hadrons in small collision systems characterised by large charged-particle multiplicities. For this purpose, the production of the single-strange meson KS0 and the double-strange baryon Ξ± is measured, in each even
Background and objective: The European Association of Urology (EAU) renal cell carcinoma (RCC) guideline panel has updated their evidence-based guidelines and recommendations for the management of RCC. Here we present a summary of the 2025 RCC guidelines updated with standardised methodology to provide reproducible evidence for the management of RCC. Methods: For the 2025 update, a literature sear
