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Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this s
Background. Philadelphia chromosome positive (Ph+) ALL accounts for 3-5% of pediatric ALL. An international survey on 640 children diagnosed between 1995 and 2005 and treated with chemotherapy and stem cell transplantation (SCT) without the use of tyrosin kinase inhibitors (TKI) recently reported an overall 7-year event free survival (EFS) and overall survival (OS) of 31.2% and 44.2%, respectively
Metabolomics is now widely used to characterize metabolic phenotypes associated with lifestyle risk factors such as obesity. The objective of the present study was to explore the associations of body mass index (BMI) with 145 metabolites measured in blood samples in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Metabolites were measured in blood from 392 men from t
Introduction: We investigate the risks of subsequent primary bone cancers after childhood and adolescent cancer in 12 European countries. For the first time, we satisfactorily address the risks beyond 40 years from diagnosis and beyond 40 years of age among all survivors.Methods: This largest-ever assembled cohort comprises 69 460 five-year survivors of cancer diagnosed before age 20 years. Standa
Background: Odd-odd nuclei, around doubly closed shells, have been extensively used to study proton-neutron interactions. However, the evolution of these interactions as a function of the binding energy, ultimately when nuclei become unbound, is poorly known. The F26 nucleus, composed of a deeply bound π0d5/2 proton and an unbound ν0d3/2 neutron on top of an O24 core, is particularly adapted for t
Higgs boson production with subsequent decay to photons was searched for in the data collected by the DELPHI detector at centre-of-mass energies between 183 GeV and 209 GeV, corresponding to a total integrated luminosity of nearly 650 pb(-1). No evidence for a signal was found, and limits were set on h(0)Z(0) and h(0)A(0) production with h(0) decay to photons. These results were used to exclude re
BACKGROUND Ixazomib is an oral proteasome inhibitor that is currently being studied for the treatment of multiple myeloma. METHODS In this double-blind, placebo-controlled, phase 3 trial, we randomly assigned 722 patients who had relapsed, refractory, or relapsed and refractory multiple myeloma to receive ixazomib plus lenalidomide-dexamethasone (ixazomib group) or placebo plus lenalidomide-dexame
Context. The nature of the metallicity gradient inside the solar circle (RGC <8 kpc) is poorly understood, but studies of Cepheids and a small sample of open clusters suggest that it steepens in the inner disk. Aims. We investigate the metallicity gradient of the inner disk using a sample of inner disk open clusters that is three times larger than has previously been studied in the literature to b
Adaptation of crops to climate change has to be addressed locally due to the variability of soil, climate and the specific socio-economic settings influencing farm management decisions. Adaptation of rainfed cropping systems in the Mediterranean is especially challenging due to the projected decline in precipitation in the coming decades, which will increase the risk of droughts. Methods that can
The field flatness and the layout of the stabilization system in a drift tube linac are strongly dependent on the manufacturing errors that affect the local resonant frequency. In this paper a methodology is presented to study, firstly, the sensitivityof the resonant frequency and of the field flatness to each geometrical parameter of the drift tubes; then a set of tolerances for each parameter i
Making an accurate Radio Frequency, RF, design of any accelerating structure is fundamental to ensure that electromagnetic and beam dynamics requirements will be achieved. This is essential for the most complicated accelerating structureslike the Drift Tube Linac, DTL; in this case a meticulous design facilitates the RF commissioning too. In this paper the influence of the interfaces and of the fi
Although atherosclerosis starts in early life, evidence on risk factors and atherosclerosis in individuals aged <45 years is scarce. Therefore, we studied the relationship between risk factors, common carotid intima-media thickness (CIMT), and first-time cardiovascular events in adults aged <45 years. Our study population consisted of 3067 adults aged <45 years free from symptomatic cardiovascular
Meta-analyses of extant genome-wide data illustrate the need to focus on subtypes of ischemic stroke for gene discovery. The National Institute of Neurological Disorders and Stroke SiGN (Stroke Genetics Network) contributes substantially to meta-analyses that focus on specific subtypes of stroke.
To accurately examine associations of physical activity (PA) with disease outcomes, a valid method of assessing free-living activity is required. We examined the validity of a brief PA questionnaire (PAQ) used in the European Prospective Investigation into Cancer and Nutrition (EPIC). PA energy expenditure (PAEE) and time spent in moderate and vigorous physical activity (MVPA) was measured in 1,94
Accurate diagnosis of frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance remains challenging due to lack of clinical characterization, and standardized terminology. The recent research of the International Working Group (IWG) identified common symptoms but also unveiled broad terminologies lacking precision and operationalization, with risk of misdiagnoses, inappro
Importance Substantial improvements in childhood cancer survival have created a critical need to address serious long-term health complications, such as valvular heart disease (VHD). Objective To identify treatment-related risk factors for VHD in a large European cohort of long-term childhood cancer survivors. Design, Setting, and Participants This nested case-control study used data from the PanC
Differences in glucose metabolism among categories of prediabetes have not been systematically investigated. In this longitudinal study, participants (N = 2,111) underwent a 2-h 75-g oral glucose tolerance test (OGTT) at baseline and 48 months. HbA1c was also measured. We classified participants as having isolated prediabetes defect (impaired fasting glucose [IFG], impaired glucose tolerance [IGT]
Aims. We aim to constrain the mixing processes in low-mass stars by investigating the behaviour of the Li surface abundance after the main sequence. We take advantage of the data from the sixth internal data release of Gaia-ESO, IDR6, and from the Gaia Early Data Release 3, EDR3s. Methods. We selected a sample of main-sequence, sub-giant, and giant stars in which the Li abundance is measured by th
In this work, we use attosecond time-resolved techniques to investigate photoionization dynamics on its natural timescale, employing both high harmonic generation and seeded free-electron lasers to generate extreme ultraviolet attosecond pulse trains for our studies. With the former approach, we examine the role of nuclear motion in molecular photoionization dynamics, while with the latter we intr
