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Somatic mutations in human cancers show unevenness in genomic distribution that correlate with aspects of genome structure and function. These mutations are, however, generated by multiple mutational processes operating through the cellular lineage between the fertilized egg and the cancer cell, each composed of specific DNA damage and repair components and leaving its own characteristic mutationa
Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were
In March 2023, the European Forum for Research and Education in Allergy and Airways diseases (EUFOREA) organized its bi-annual Summit in Brussels with expert panel members of EUFOREA, representatives of the EUFOREA patient advisory board, and the EUFOREA board and management teams. Its aim was to define the research, educational and advocacy initiatives to be developed by EUFOREA over the next 2 y
OBJECTIVE: To compare the effect of early and late intervention for posthemorrhagic ventricular dilatation on additional brain injury and ventricular volume using term-equivalent age-MRI.STUDY DESIGN: In the Early vs Late Ventricular Intervention Study (ELVIS) trial, 126 preterm infants ≤34 weeks of gestation with posthemorrhagic ventricular dilatation were randomized to low-threshold (ventricular
The extent of vegetation openness in the temperate forest biome prior to modern humans is widely debated – particularly in Europe regarding baselines for conservation and restoration. The temperate forest biome was traditionally thought to be dense closed-canopy forest; however, this view has been challenged by arguments that large herbivores could have maintained some degree of openness, or even The extent of vegetation openness in past European landscapes is widely debated. In particular, the temperate forest biome has traditionally been defined as dense, closed-canopy forest; however, some argue that large herbivores maintained greater openness or even wood-pasture conditions. Here, we address this question for the Last Interglacial period (129,000–116,000 years ago), before Homo sapien
Primary and secondary bile acids (BAs) influence metabolism and inflammation, and the gut microbiome modulates levels of BAs. We systematically explore the host genetic, gut microbial, and habitual dietary contribution to a panel of 19 serum and 15 stool BAs in two population-based cohorts (TwinsUK, n = 2,382; ZOE PREDICT-1, n = 327) and assess changes post-bariatric surgery and after nutritional
In ultrafast spectroscopy, the temporal resolution of time-resolved experiments depends on the duration of the pump and probe pulses, and on the control and characterization of their relative synchronization. Free-electron lasers operating in the extreme ultraviolet and X-ray spectral regions deliver pulses with femtosecond and attosecond duration in a broad array of pump–probe configurations to s
In the last two decades, very-high-energy gamma-ray astronomy has reached maturity: over 200 sources have been detected, both Galactic and extragalactic, by ground-based experiments. At present, Active Galactic Nuclei (AGN) make up about 40% of the more than 200 sources detected at very high energies with ground-based telescopes, the majority of which are blazars, i.e. their jets are closely align
BACKGROUND: There are currently no biomarkers used to select cryptogenic stroke (CS) patients for monitoring with insertable cardiac monitors (ICMs), the most effective tool for diagnosing atrial fibrillation (AF) in CS. The purpose of this study was to assess clinically available biomarkers as predictors of AF.METHODS: Eligible CS and cryptogenic transient ischemic attack (TIA) patients underwent
We present 44 validated planets from the 10th observing campaign of the NASA K2 mission, as well as high-resolution spectroscopy and speckle imaging follow-up observations. These 44 planets come from an initial set of 72 vetted candidates, which we subjected to a validation process incorporating pixel-level analyses, light curve analyses, observational constraints, and statistical false positive p
Purpose: The number of persons who have successfully completed treatment for a cancer diagnosed during childhood and who have entered adulthood is increasing over time, and former patients will become aging citizens. Methods: Ten years ago, an expert panel met in Erice, Italy, to produce a set of principles concerning the cure and care of survivors of childhood and adolescent cancer. The result wa
Organic farming (OF) enhances top soil organic carbon (SOC) stocks in croplands compared with conventional farming (CF), which can contribute to sequester C. As farming system differences in the amount of C inputs to soil (e.g. fertilization and crop residues) are not enough to explain such increase, shifts in crop residue traits important for soil C losses such as litter decomposition may also pl
Bakgrund Med en snabbt växande äldre populationsgrupp kommer även andelen med kognitiva störningar, som demens, att växa. Det är således nödvändigt med forskning på kognition och åldrande. Denna avhandling, genom fyra delarbeten, redogör för testledareffekter vid kognitionsmätningar och hur yngre födelsekohorter (generationer) presterar bättre än äldre på kognitionstester. Den kommer även förklaraGiven a growing population of older adults and the common occurrence of natural as well as pathological cognitive decline, i.e. dementia, there is a need to better understand how to accurately measure and classify level of cognitive functioning. Both using multiple test administrators to collect cognitive data and what year the participant is born (birth cohort effects) can influence participants’
Obesity is a major health problem, and although caloric restriction and exercise are successful strategies to lose adipose tissue in obese individuals, a simultaneous decrease in skeletal muscle mass, negatively effects metabolism and muscle function. To deeper understand molecular events occurring in muscle during weight-loss, we measured the expressional change in human skeletal muscle following
OBJECTIVE: The prevalence of type 2 diabetes is rising rapidly in low-income and middle-income countries (LMICs), but the factors driving this rapid increase are not well understood. Adult height, in particular shorter height, has been suggested to contribute to the pathophysiology and epidemiology of diabetes and may inform how adverse environmental conditions in early life affect diabetes risk.
Introduction: Timing of cord clamping and other cord management strategies may improve outcomes at preterm birth. However, it is unclear whether benefits apply to all preterm subgroups. Previous and current trials compare various policies, including time-based or physiology-based deferred cord clamping, and cord milking. Individual participant data (IPD) enable exploration of different strategies
Context. There have been conflicting results with respect to the extent that radial migration has played in the evolution of the Galaxy. Additionally, observations of the solar neighborhood have shown evidence of a merger in the past history of the Milky Way that drives enhanced radial migration. Aims. We attempt to determine the relative fraction of stars that have undergone significant radial mi
