Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska Universi

As the dimensions of interconnects in integrated circuits continue to shrink, an urgent need arises to understand the physical mechanism associated with electromigration. Using x-ray nanodiffraction, we analyzed the stresses in Blech-structured pure Cu lines subjected to different electromigration conditions. The results suggest that the measured residual stresses in the early stages of electromig

Syftet med den här texten är att beskriva olika former av mikroaggressioner och ge exempel på hur de kan ta sig uttryck. Vi kommer att gå igenom hur de hanteras av de som utsätts, samt diskutera varför yrkesverksamma som träffar människor i sitt arbete behöver ha kunskap om mikroaggressioner. I den här texten kommer vi framför allt att belysa situationen för hbtq-personer, alltså personer som är hSyftet med den här texten är att beskriva olika former av mikroaggressioner och ge exempel på hur de kan ta sig uttryck. Vi kommer att gå igenom hur de hanteras av de som utsätts, samt diskutera varför yrkesverksamma som träffar människor i sitt arbete behöver ha kunskap om mikroaggressioner. I den här texten kommer vi framför allt att belysa situationen för hbtq-personer, alltså personer som är h

This study investigates the suitability of heat conduction calorimeters for determining the specific heat capacity of solid and liquid substances. Accurate and precise measurements were obtained for various substances, including water, ethylene glycol, the ionic liquid [EMIM][TCM], and copper, with relative standard deviations averaging less than 1%. Measurements on [EMIM][DCA] indicated a systema

Airborne mineral dust is sensitive to climatic changes, but its response to orbital forcing is still not fully understood. Here, we present a reconstruction of dust input to the Subarctic Pacific Ocean covering the past 190 kyr. The dust composition record is indicative of source moisture conditions, which were dominated by precessional variations. In contrast, the dust flux record is dominated by

The fast evolution of the QGP makes its interaction with jets an inherently time-dependent process. However, this crucial dimension is missing from traditional jet quenching measurements, which hence provide a mere average quantification of the medium properties. Jet substructure observables provide an effective strategy to access the QGP time structure. By identifying the recursive steps of a nov

Despite marked progress in the management of atrial fibrillation (AF), detecting AF remains difficult and AF-related complications cause unacceptable morbidity and mortality even on optimal current therapy. This document summarizes the key outcomes of the 8th AFNET/EHRA Consensus Conference of the Atrial Fibrillation NETwork (AFNET) and the European Heart Rhythm Association (EHRA). Eighty-three in

We extend the ecological component (ECOGEM) of the carbon-centric Grid-Enabled Integrated Earth system model (cGEnIE) to include a diatom functional group. ECOGEM represents plankton community dynamics via a spectrum of ecophysiological traits originally based on size and plankton food web (phyto- and zooplankton; EcoGEnIE 1.0), which we developed here to account for a diatom functional group (Eco

Changes in nutritional and technological properties during storage of milk and cream subjected to different heat treatments at dairy production scale (high-temperature-short-time pasteurisation, extended shelf-life treatment and ultra-high temperature treatment) were investigated. Results indicate a decrease in pH with longer storage times, whereas no changes in ionic calcium concentration occurre

Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease that has been shown to be associated with allergic comorbidities. However, studies examining comorbidities in patients with AD are incomplete, which may contribute to suboptimal care. Objectives: The objective was to compare the risk of developing different allergic and nonallergic comorbidities among adult patients with AD

Despite awareness of the negative consequences of car use, leisure trips are still often made by car. A better understanding of the potential for a transition to more sustainable transport behaviour requires more knowledge about the differences in car use between individuals and leisure trip purposes. As a basis for this, individuals were clustered into six car-oriented and five non-car-oriented l

Understanding the evolution of multipath components (MPCs) in real radio channels is crucial to enhancing channel modeling and multipath-assisted positioning. This paper provides an experimental analysis of the behavior of MPCs originating from a standard building facade at millimeter wave (mmWave) frequencies. Utilizing a high-resolution channel parameter estimation method alongside a joint clust

Heart failure (HF) is a leading cause of death and disability globally. Heritable factors and the extent and pattern of myocardial fibrosis are important determinants of outcomes in patients with HF. In a genome-wide association study of mortality in HF, we recently identified a genetic polymorphism on chromosome 5q22 associated with HF mortality. Here, we sought to study the mechanisms by which t

Ultra-short period planets (USPs) have orbital periods of less than 1 d. Since their masses and radii can be determined to a higher precision than long-period planets, they are the preferred targets to determine the density of planets which constrains their composition. The K2-106 system is particularly interesting because it contains two planets of nearly identical masses. One is a high-density U