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Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based test). We found that RAFT outperforms existing approaches when the variant influences disease risk i
A search has been performed for photons originating in the decay of a neutral long-lived particle, exploiting the capabilities of the ATLAS electromagnetic calorimeter to make precise measurements of the flight direction of photons, as well as the calorimeter's excellent time resolution. The search has been made in the diphoton plus missing transverse energy final state, using the full data sample
This study analyzes (a) the relation between injury severities, the age of the bicyclist and the speed environment at accident locations (mean travel speed of the traffic flow involved in the accident) where a bicyclist was struck by a motorized vehicle and (b) how these relations differ from those for struck pedestrians. Accident data from Sweden for the years 2004-2008 was used to identify accid
An inclusive search for anomalous production of two prompt, isolated muons with the same electric charge is presented. The search is performed in a data sample corresponding to 1.6 fb(-1) of integrated luminosity collected in 2011 at root s = 7 TeV with the ATLAS detector at the LHC. Muon pairs are selected by requiring two isolated muons of the same electric charge with p(T) > 20 GeV and vertical
Group G streptococcus (GGS) is a human bacterial pathogen expressing surface proteins FOG and protein G (PG) which interact with several host defense systems, including the complement and contact systems. Selected reaction monitoring mass spectrometry, electron microscopy, and protein binding assays were used to follow the amounts of FOG and PG intracellularly and on the bacterial surface during d
INTRODUCTION: Lipid micro embolization (LME) from re-transfused shed blood has been postulated to be a potential reason for short- and long-term cognitive dysfunction after cardiac surgery. The purpose of this investigation was to evaluate if transcranial Doppler (TCD) has the capacity to detect LME. METHODS: Thirteen patients undergoing cardiopulmonary bypass surgery were investigated. Each patie
Our study aimed to describe the clinical outcome of patients with superficial soft-tissue sarcomas (SSTS), define prognostic factors and provide evidence for a rational surveillance scheme.
Genetic susceptibility accounts for similar to 35% of all colorectal cancer (CRC). Ten common low-risk variants contributing to CRC risk have been identified through genome-wide association studies (GWASs). In our GWAS, 610 664 genotyped single-nucleotide polymorphisms (SNPs) passed the quality control filtering in 371 German familial CRC patients and 1263 controls, and replication studies were co
Patients with adult acquired flatfoot deformity (AAFD) due to posterior tibial tendon dysfunction (PTTD) may require surgery but few reports have evaluated the outcome.
The usefulness of dietary strategies against cardiometabolic risk is increasingly being acknowledged. Legumes and whole grains can modulate risk markers associated with cardiometabolic diseases, but their possible additive/synergistic actions are unknown. The objective of the present study was to assess, in healthy subjects, the effect of a diet including specific whole-grain barley products and l
Popular Abstract in Swedish Tillväxtfaktorer kan förbättra cellöverlevnad och funktion i djurmodeller av Parkinson’s sjukdom. En av de vanligaste sjukdomarna i nervsystemet är Parkinson’s sjukdom. Den uppkommer genom att man gradvis förlorar en viss grupp av nervceller som använder signalsubstansen dopamin, vilket i sin tur leder till brist på dopamin i målområdet i hjärnan, striatum. Detta resulParkinson’s disease is characterized by progressive degeneration of the nigrostriatal dopamine system, which results in tremor, rigidity, akinesia and postural abnormalities. New therapeutic strategies are aimed at halting the neurodegenerative process or restoring the system by transplantation of fetal dopamine neurons. We have investigated the potential of the neurotrophic factors glial cell lin
Abstract is not available.
When designing fire safety of buildings the fire growth rate is an important parameter, in large affecting the overall fire safety level within the building. Generally, a deterministic fire growth rate is used raising the question whether the resulting design arrives at a reasonable level of safety. A method was developed to obtain distributions of fire growth rates in specific building types.
MAX IV is presently under construction at Lund, Sweden, and the first beam for the production of synchrotron radiation is expected to circulate in 2016. The whole set of 3 GeV ring beam pipes is coated with Ti-Zr-V Non Evaporable Getter (NEG) thin film in order to fulfil the average pressure requirement of 1×10-9 mbar, despite the compact magnet layout and the large aspect ratio of the vacuum cham
Haemophilia A is a congenital bleeding disorder characterised by recurrent haemorrhages into the major joints. Haemophilic arthropathy is a well-established outcome of recurrent joint bleeding; however, it is clear that multiple factors determine the extent and severity of its occurrence. We sought to identify genetic factors related to abnormalities in range of motion (ROM) in the knees, ankles a
The printed circuit boards basis of electronic equipment have seen a rapid growth in recent years and played a significant role in modern life. Nowadays, the fact that electronic devices upgrade quickly necessitates a proper management of waste printed circuit boards. Non-destructive desoldering of waste printed circuit boards becomes the first and the most crucial step towards recycling electroni
The aim of this study was to illuminate spouses' perceptions of living with a partner who had been diagnosed with rectal cancer followed by surgery resulting in a stoma. The focus group interview was chosen as method of data collection. Two focus group interviews consisting of 2 meetings each were conducted. A qualitative content analysis was used. Five themes emerged: difficulties of being involv
Even with the availability of targeted drugs, allogeneic hematopoietic cell transplantation (allo-HCT) is the only therapy with curative potential for patients with CLL. Cure can be assessed by comparing long-term survival of patients to the matched general population. Using data from 2589 patients who received allo-HCT between 2000 and 2010, we used landmark analyses and methods from relative sur
Cases of successful developmental states constrained by democratic institutions pose challenges to the literature on the political economy of late development. On the one hand, the dominant view is that successful developmental states tend to rely on authority-based coordination mechanisms—corporatist arrangements, labor repression, professional bureaucracies insulated from popular pressures—to soCases of successful developmental states constrained by democratic institutions pose challenges to the literature on the political economy of late development. On the one hand, the dominant view is that successful developmental states tend to rely on authority-based coordination mechanisms—corporatist arrangements, labor repression, professional bureaucracies insulated from popular pressures—to so
P-type ATPases from the P4 subfamily (P4-ATPases) are energy-dependent transporters, which are thought to establish lipid asymmetry in eukaryotic cell membranes. Together with their Cdc50 accessory subunits, P4-ATPases couple ATP hydrolysis to lipid transport from the exoplasmic to the cytoplasmic leaflet of plasma membranes, late Golgi membranes, and endosomes. To gain insights into the structure
