Next-generation sequencing technologies are making it possible to study the role of rare variants in human disease. Many studies balance statistical power with cost-effectiveness by (a) sampling from phenotypic extremes and (b) utilizing a two-stage design. Two-stage designs include a broad-based discovery phase and selection of a subset of potential causal genes/variants to be further examined in

One of the largest sources of uncertainties in modelling of the future global climate is the response of the terrestrial carbon cycle. Studies have shown that it is likely that the extant land sink of carbon will weaken in a warming climate. Should this happen, a larger portion of the annual carbon dioxide emissions will remain in the atmosphere, and further increase global warming, which in turn

Understanding, monitoring and mitigating drought is a very difficult task as a consequence of the intrinsic nature of the phenomenon. In addition, assessing the impact of drought on ecosystems and societies is also a complex task, because the same drought severity may have different consequences in different regions and systems due to the underlying vulnerabilities. New technologies based on geosp

The superiority of positron emission tomography (PET) with 2-deoxy-2-[18F]fluoro-D-glucose (FDG) over computed tomography and magnetic resonance imaging in detecting recurrent cervical cancer and determining the extent of the disease has been demonstrated in several clinical trials. However, there is a lack of data concerning the clinical impact of the extra findings. We report here a prospective

Bariatric patients seeking information meet very different recommendations on postoperative diet and eating behaviour. A reason for variability may be lack of hard evidence. A national survey on current dietary advice was conducted to serve as background for the present study on how drinking during a meal influenced caloric consumption.

CONTEXT: Prior research suggests that drug abuse (DA) is strongly influenced by both genetic and familial environmental factors. No large-scale adoption study has previously attempted to verify and integrate these findings. OBJECTIVE: To determine how genetic and environmental factors contribute to the risk for DA. DESIGN: Follow-up in 9 public databases (1961-2009) of adopted children and their

Members of the TALE (Three-amino acid loop extension) family of atypical homeodomain-containing transcription factors are important downstream effectors of oncogenic fusion proteins involving the mixed lineage leukemia (MLL) gene. A well-characterized member of this protein family is MEIS1, which orchestrates a transcriptional program required for the maintenance of MLL-rearranged acute myeloid le

Involuntary movements, or dyskinesia, represent a debilitating complication of levodopa (L-dopa) therapy for Parkinson's disease (PD). L-dopa-induced dyskinesia (LID) are ultimately experienced by the vast majority of patients. In addition, psychiatric conditions often manifested as compulsive behaviours, are emerging as a serious problem in the management of L-dopa therapy. The present review att

Evaluated cross-section data files were prepared for stable tungsten isotopes with the objective to provide reliable and sound nuclear data for activation and inventory calculations of the European Spallation Source, which utilizes a tungsten target. The data files contain yields of radionuclides produced by proton induced reactions with incident energies up to 3 GeV. The calculations of cross-sec

Results of a search for new phenomena in events with an energetic photon and large missing transverse momentum in proton-proton collisions at root s = 7 TeV are reported. Data collected by the ATLAS experiment at the LHC corresponding to an integrated luminosity of 4.6 fb(-1) are used. Good agreement is observed between the data and the standard model predictions. The results are translated into e

The aim of this work was to investigate whether measurement of the mean common carotid intima-media thickness (CIMT) improves cardiovascular risk prediction in individuals with diabetes. We performed a subanalysis among 4,220 individuals with diabetes in a large ongoing individual participant data meta-analysis involving 56,194 subjects from 17 population-based cohorts worldwide. We first refitted

Although it is known that the islet expression of glucagon receptors is increased in type 2 diabetes, its implication for beta-cell function is not known.

Papillomaviruses (PV) are a remarkably heterogeneous family of small DNA viruses that infect a wide variety of vertebrate species and are etiologically linked with the development of various neoplastic changes of the skin and mucosal epithelia. Based on nucleotide similarity, PVs are hierarchically classified into genera, species and types. Novel human PV (HPV) types are given a unique number only

Potex constitutes a potato fiber preparation widely used as an ingredient to meat and bakery products which thermal treatment results in creation of new compounds. Melanoidins are high molecular weight brown end products of Maillard reaction, and few data presenting tumor cell growth inhibiting activity of melanoidins have been reported. Thus, in present study we utilized water extract of Potex ro

We present microparticle image velocimetry measurements of suspended microparticles of diameters from 0.6 to 10 mu m undergoing acoustophoresis in an ultrasound symmetry plane in a microchannel. The motion of the smallest particles is dominated by the Stokes drag from the induced acoustic streaming flow, while the motion of the largest particles is dominated by the acoustic radiation force. For al

Hexachlorobenzene (HCB) is a persistent environmental fungicide that may disrupt androgen regulation. The aim of this study was to investigate associations between HCB levels and biomarkers of male reproductive function. 589 spouses of pregnant women from Greenland, Poland and Ukraine were enrolled between 2002 and 2004. The men provided semen and blood samples and were interviewed. HCB was measur