Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using q

Acute myeloid leukemias (AMLs) are overlapping hematological neoplasms associated with rapid onset, progressive, and frequently chemo-resistant disease. At diagnosis, classification and risk stratification are critical for treatment decisions. A group with expertise in the clinical, pathologic, and genetic aspects of these disorders developed the International Consensus Classification (ICC) of acu

Recent observations of the gamma-ray source HAWC J2227+610 by Tibet AS+MD and LHAASO confirm the special interest of this source as a galactic PeVatron candidate in the northern hemisphere. HAWC J2227+610 emits Very High Energy (VHE) gamma-rays up to 500 TeV, from a region coincident with molecular clouds and significantly displaced from the nearby pulsar J2229+6114. Even if this morphology favour

Much remains to be understood about the nature of exoplanets smaller than Neptune, most of which have been discovered in compact multi-planet systems. With its inner ultra-short period planet b aligned with the star and two larger outer planets d-c on polar orbits, the multi-planet system HD 3167 features a peculiar architecture and offers the possibility to investigate both dynamical and atmosphe

Recent studies based on photometry from the Transiting Exoplanet Survey Satellite (TESS) have suggested that the dayside of KELT-1b, a strongly irradiated brown dwarf, is significantly brighter in visible light than what would be expected based on Spitzer observations in the infrared. We observed eight eclipses of KELT-1b with CHaracterising ExOPlanet Satellite (CHEOPS) to measure its dayside brig

The Cherenkov Telescope Array (CTA) will be the next generation gamma-ray observatory and will be the major global instrument for very-high-energy astronomy over the next decade, offering 5 − 10 × better flux sensitivity than current generation gamma-ray telescopes. Each telescope will provide a snapshot of gamma-ray induced particle showers by capturing the induced Cherenkov emission at ground le

Purpose: This paper aims to identify research approaches and issues in relation to the main paradigms of resilience: engineering resilience, ecological resilience and socio-ecological resilience. This paper provides a synthesis of the core elements of each resilience approach and their implications. Design/methodology/approach: A critical thematic review was undertaken of the hospitality and touri

The detection of electromagnetic (EM) emission following the gravitational wave (GW) event GW170817 opened the era of multi-messenger astronomy with GWs and provided the first direct evidence that at least a fraction of binary neutron star (BNS) mergers are progenitors of short Gamma-Ray Bursts (GRBs). GRBs are also expected to emit very-high energy (VHE, > 100 GeV) photons, as proven by the recen

The Cherenkov Telescope Array (CTA) observatory is the next generation of ground-based imaging atmospheric Cherenkov telescopes (IACTs). Building on the strengths of current IACTs, CTA is designed to achieve an order of magnitude improvement in sensitivity, with unprecedented angular and energy resolution. CTA will also increase the energy reach of IACTs, observing photons in the energy range from

Background: Intermittent claudication requires treatment with secondary prevention to reduce disease progression and the risk of cardiovascular events and to improve quality of life. Health literacy and self-efficacy are important preconditions for the health behaviour changes necessary for adhering to secondary prevention. Aim: Evaluate health literacy in patients with intermittent claudication r

High-energy gamma rays are promising tools to constrain or reveal the nature of dark matter, in particular Weakly Interacting Massive Particles. Being well into its pre-construction phase, the Cherenkov Telescope Array (CTA) will soon probe the sky in the 20 GeV - 300 TeV energy range. Thanks to its improved energy and angular resolutions as well as significantly larger effective area when compare

The Cherenkov Telescope Array (CTA) is the next-generation gamma-ray observatory currently under construction. It will improve over the current generation of imaging atmospheric Cherenkov telescopes (IACTs) by a factor of five to ten in sensitivity and it will be able to observe the whole sky from a combination of two sites: a northern site in La Palma, Spain, and a southern one in Paranal, Chile.

High levels of cell-free haemoglobin (Hb) may occur in plasma as a consequence of e.g., pathological haemolysis or blood transfusion. These Hb molecules can be removed from blood circulation by forming a complex with the acute-phase protein haptoglobin (Hp) and thereby can also the intrinsic toxicity of free Hb be limited. In this study it is shown that ferric HbA, HbF, HbE and HbS, respectively,

The Cherenkov Telescope Array (CTA) is the future ground-based observatory for gamma-ray astronomy at very high energies. The atmosphere is an integral part of every Cherenkov telescope. Different atmospheric conditions, such as clouds, can reduce the fraction of Cherenkov photons produced in air showers that reach ground-based telescopes, which may affect the performance. Decreased sensitivity of

Background and ObjectivesImpaired spatial navigation is considered an early sign in many neurodegenerative diseases. We aimed to determine whether spatial navigation was associated with future dementia in patients with subjective cognitive decline (SCD) or mild cognitive impairment (MCI) and to explore associations between spatial navigation and biomarkers of Alzheimer disease (AD) and neurodegene

We investigate the possibility of detection of the VHE gamma-ray counterparts to the neutrino astrophysical sources within the Neutrino Target of Opportunity (NToO) program of CTA using the populations simulated by the FIRESONG software to resemble the diffuse astrophysical neutrino flux measured by IceCube. We derive the detection probability for different zenith angles and geomagnetic field conf

In this Letter, we explore the use of thermodynamic length to improve the performance of experimental protocols. In particular, we implement Landauer erasure on a driven electron level in a semiconductor quantum dot, and compare the standard protocol in which the energy is increased linearly in time with the one coming from geometric optimization. The latter is obtained by choosing a suitable metr

The objective of this article was to assess the cost-effectiveness of screening strategies for cardiovascular diseases (CVD). A decision analytic model was constructed to estimate the costs and benefits of one-off screening strategies differentiated by screening age, sex and the threshold for initiating statin therapy (“uniform” or “age-adjusted”) from the Spanish NHS perspective. The age-adjusted

Swedish universities and colleges have received a substantial funding increase since the turn of the millennium, as part of continued policies of expanding the admission of students to higher education to broader layers of the population and strengthen Swedish public research and development to increase the competitiveness of the Swedish knowledge-based economy. In this article, publicly available

Introduction: As people with haemophilia (PWH) receive better treatment and live longer they are more likely to encounter cardiovascular disease (CVD) and other comorbidities. ESC guidelines for the acute management of patients presenting with acute coronary syndrome (ACS) are based on the non-haemophilia population. Aim: To review the guidelines and propose relevant adaptations for PWHA without i