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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 method based on hollow-fibre liquid phase microextraction combined with gas chromatography was developed for determination of specific bile acids in caecal materials of rats. Nine unconjugated bile acids, including the primary bile acids (cholic acid, chenodeoxycholic acid and α-muricholic acid) and the secondary bile acids (lithocholic acid, deoxycholic acid, ursodeoxycholic acid, hyodeoxycholi

Lipotoxicity is a presumed pathogenetic process whereby elevated circulating and stored lipids in Type 2 Diabetes cause pancreatic β-cell failure. To resolve the underlying molecular mechanisms, we exposed clonal INS-1 832/13 β-cells to palmitate for 48 h. We observed elevated basal insulin secretion but impaired glucose-stimulated insulin secretion in palmitate-exposed cells. Glucose utilization

Increases in striatal activity have been suggested to mediate training-related improvements in working-memory ability. We investigated the temporal dynamics of changes in task-related brain activity following training of working memory. Participants in an experimental group and an active control group, trained on easier tasks of a constant difficulty in shorter sessions than the experimental group

Why do certain ministers remain in their post for years while others have their time in office cut short? Drawing on the broader literature on portfolio allocation, this article argues that the saliency of individual portfolios shapes ministerial turnover. The main argument is that ministerial dismissals are less likely to occur the higher the saliency attributed to the ministerial portfolio since

The role of nurses and technicians in the treatment of ST-elevation myocardial infarction (STEMI) by primary percutaneous coronary intervention (PPCI) is vital for the success of the multidisciplinary Heart Team. Several editorials have emphasised the importance of a holistic treatment which links each step of care to the next, a chain that is essential for quality and efficacy in the management o

The review essay compares two different positions on climate geoengineering, providing an overview of the authors' main points and a subsequent analysis of their arguments.

Flow characteristics and heat transfer performances of rectangular dimpled channels with secondary protrusions are numerically analyzed and compared in this research work. The special arrangement is a conventional dimpled cavity with a small-size secondary protrusion placed upstream of the dimple. The objective is to determine the most optimal configuration for augmenting heat transfer rates with

We present a systematic comparison of conventional small-angle X-ray scattering (SAXS) with the relatively new real-space technique, spin-echo small-angle neutron scattering (SESANS). We apply both techniques to colloidal suspensions where the particles interact as hard spheres, with electrostatic repulsions, or with polymer-induced depletion attractions. We successfully model the data sets with t

Cellobiose dehydrogenase (CDH) is a monomeric extracellular flavocytochrome composed of a catalytic dehydrogenase domain (DHCDH) containing flavin adenine dinucleotide (FAD), a cytochrome domain (CYTCDH) containing heme b, and a linker region connecting the two domains. In this work, the effect of deglycosylation on the electrochemical properties of CDH from Phanerochaete chrysosporium (PcCDH) and

Intact pharyngeal function and coordination of breathing and swallowing are essential for airway protection and to avoid respiratory complications. Postoperative pulmonary complications caused by residual effects of neuromuscular-blocking agents occur more frequently in the elderly. Moreover, elderly have altered pharyngeal function which is associated with increased risk of aspiration. The purpos

There are many instruments assessing the wellbeing of staff, but far from all have been psychometrically investigated. When evaluating supportive interventions directed toward nurse assistants in residential care, valid and reliable instruments are needed in order to detect possible changes. The aim of the study was to investigate validity in terms of data quality, construct validity, convergent a

Aim We investigate the importance of interacting species for current and potential future species distributions, the influence of their ecological characteristics on projected range shifts when considering or ignoring interacting species, and the consistency of observed relationships across different global change scenarios.

Objectives To estimate the associations between occupational exposure to pesticides and extrahepatic biliary tract carcinoma in men, a population-based case-control study was carried out. Methods Cases (n = 104), aged 35-70, diagnosed in 1995-1997, were sampled by active reporting systems from hospitals. Controls (n = 1,401) were a random sample of the general male population. Information on occup

The N-terminal catalytic module of beta-mannanase TrMan5A from the filamentous fungus Trichoderma reesei is classified into family 5 of glycoside hydrolases. It is further classified in clan A with a (beta/alpha)(8) barrel configuration and has two catalytic glutamates (E169 and E276). It has at least five other residues conserved in family 5. Sequence alignment revealed that an arginine (R171 in

Prior work demonstrated increased levels of hypoxia-inducible factor-1α (HIF-1α) in the bladder following outlet obstruction, associated with bladder growth and fibrosis. Here we hypothesized that HIF induction in outlet obstruction also switches energetic support of contraction from mitochondrial respiration to glycolysis. To address this hypothesis, we created infravesical outlet obstruction in

With New Public Management came the idea that public organizations should be led by professional managers, rather than by professionals. This has been referred to as new managerialism. This article explores how new managerialism may affect professional autonomy in a public organization that enjoys a high – and constitutionally protected – degree of organizational autonomy. A framework distinguishi

Shielding, coincidence, and time-of-flight measurement techniques are employed to tag fast neutrons emitted from an (241)Am/(9)Be source resulting in a continuous polychromatic energy-tagged beam of neutrons with energies up to 7MeV. The measured energy structure of the beam agrees qualitatively with both previous measurements and theoretical calculations.

We analysed 12 years of data on the spring migration of the common toad Bufo bufo L. to breeding ponds across 25 locations in Derbyshire, UK, to determine factors influencing the number of toads active per night. We also tested whether the timing of spring migration is predicted by annual variation in temperature or precipitation. More toads migrate in warmer temperatures and as the moon waxes, wh