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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

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.

Helicobacter pylori is a recognized causal factor of noncardia gastric cancer (GC). Lipopolysaccharide and peptidoglycan of this bacterium are recognized by CD14, TLR4 and NOD2 human proteins, while NFKB1 activates the transcription of pro-inflammatory cytokines to elicit an immune response. Single nucleotide polymorphisms (SNPs) in these genes have been associated with GC in different populations

Surgery is essential for global cancer care in all resource settings. Of the 15.2 million new cases of cancer in 2015, over 80% of cases will need surgery, some several times. By 2030, we estimate that annually 45 million surgical procedures will be needed worldwide. Yet, less than 25% of patients with cancer worldwide actually get safe, aff ordable, or timely surgery. This Commission on global ca

GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations in the high-risk melanoma susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 and p14ARF, and CDK4 and to evaluate their relationship with pancreatic cancer (PC), neural system

The production of single- and multi-photon events has been studied in the reaction e(+) e(-) --> gamma(gamma) + invisible particles. The data collected with the DELPHI detector during the years 1999 and 2000 at centre-of-mass energies between 191 GeV and 209 GeV was combined with earlier data to search for phenomena beyond the Standard Model. The measured number of light neutrino families was cons

Popular Abstract in Swedish Denna studie handlar om interpersonell kommunikation mellan barn och vuxna i särskolan. Specifikt inriktas den på att studera den kommunikation som sker när de kommunikationssätt som parterna använder är teckenspråk och tecken och samtidigt tal. I fokus är elever med hörselnedsättning och utvecklingsstörning, vilken är en liten, unik och outforskad elevgrupp, men också Pupils with impaired hearing and moderate to severe learning difficulties usually go to special schools for the severely learning disabled. Few studies have been conducted on the interpersonal communication among these pupils. The all-embracing aim of this study is to look closer into the communication that takes place during the school day between children and adults, in cases where Sign Language

Objective: The objective of this study was to assess the level of agreement between stroke subtype classifications made using the Trial of Org 10172 Acute Stroke Treatment (TOAST) and Causative Classification of Stroke (CCS) systems. Methods: Study subjects included 13,596 adult men and women accrued from 20 US and European genetic research centers participating in the National Institute of Neurol

Introduction: Ambient air pollution and road traffic noise are stroke risk factors, but evidence on their potential joint effects remains limited. This study investigated the independent and joint associations of air pollution and road traffic noise on stroke incidence using both multiplicative and additive scales. Methods: We followed stroke incidence in ten cohorts in Sweden, Denmark, and Finlan

We present multiwavelength observations of a gamma-ray burst detected byINTEGRAL (GRB 030227) between 5.3 hours and ~ 1.7days after the event. Here we report the discovery of a dim opticalafterglow (OA) that would not have been detected by many previoussearches due to its faintess (R ~ 23). This OA was seen to declinefollowing a power law decay with index alpha R = -0.95 +/-0.16. The spectral inde

NA44 uses a 512-channel Si pad array covering 1.5

High-spin states in Sb-106 have been investigated in the Fe-54(Ni-58, 1α 1p1n) reaction by in-beam γ-spectroscopic methods using the EUROBALL detector array equipped with charged particle and neutron detectors. On the basis of measured γγ-coincidence relations, angular distributions, and linear polarization ratios a significantly extended level scheme has been constructed up to spin and parity I-π

This paper describes flavour independent searches for hadronically decaying neutral Higgs bosons in the data collected by the DELPHI experiment at LEP, at centre-of-mass energies between 189 and 209 GeV. The collected data-set corresponds to an integrated luminosity of around 610 pb(-1). The e(+)e(-) -> hA and e(+)e(-) -> hZand processes are considered, with direct Higgs boson decays into hadrons.

Elaidic acid is the main unnatural trans fatty acid isomer occurring during partial hydrogenation of vegetable oils used as ingredients for the formulation of processed foods. The main objective is to assess associations between processed food intakes and plasma phospholipid elaidic acid concentrations within the European Prospective Investigation into Cancer and Nutrition study. A cross-sectional

We present comprehensive results on continuous atmospheric cluster and particle measurements in the size range similar to 1-42 nm within the European Integrated project on Aerosol Cloud Climate and Air Quality interactions (EUCAARI) project. We focused on characterizing the spatial and temporal variation of new particle formation events and relevant particle formation parameters across Europe. Dif

Attosecond pulses are central to the investigation of valence- and core-electron dynamics on their natural timescales1–3. The reproducible generation and characterization of attosecond waveforms has been demonstrated so far only through the process of high-order harmonic generation4–7. Several methods for shaping attosecond waveforms have been proposed, including the use of metallic filters8,9, mu

As the Arctic warms, vegetation is responding, and satellite measures indicate widespread greening at high latitudes. This ‘greening of the Arctic’ is among the world’s most important large-scale ecological responses to global climate change. However, a consensus is emerging that the underlying causes and future dynamics of so-called Arctic greening and browning trends are more complex, variable a

ObjectiveTo examine timing of eating across ten European countries.DesignCross-sectional analysis of the European Prospective Investigation into Cancer and Nutrition (EPIC) calibration study using standardized 24 h diet recalls collected during 1995-2000. Eleven predefined food consumption occasions were assessed during the recall interview. We present time of consumption of meals and snacks as we

Objectives: We previously found large variations in general practitioner (GP) hypertension treatment probability in oldest-old (>80 years) between countries. We wanted to explore whether differences in country-specific cardiovascular disease (CVD) burden and life expectancy could explain the differences. Design: This is a survey study using case-vignettes of oldest-old patients with different como

The typical methodology for comparing simulated galaxies with observational surveys is usually to apply a spatial selection to the simulation to mimic the region of interest covered by a comparable observational survey sample. In this work, we compare this approach with a more sophisticated post-processing in which the observational uncertainties and selection effects (photometric, surface gravity