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Testing for an Unusual Distribution of Rare Variants

Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the influence of very rare variants can only be evaluated effectively as a group. A further complication is that any given rare variant could have no effect, could increase risk, or

A Study on Variation Technique in Courses on Scientific Computing

The background of this study is a project aiming at assessing the quality of teaching and learning in scientific computing in different cultural settings. This, we hope will lead us to constructing standards, which can provide outcomes of comparable quality in scientific computing in different countries and societies. Specifically we want to gain insight which quality benchmarks are suitable for t

Cost-utility analysis of adjuvant therapies for breast cancer in iran

Objectives: The aim of this study was to evaluate the cost-utility of Docetaxel with doxorubicin and cyclophosphamide (TAC) and 5-fluorouracil, doxorubicin, cyclophosphamide (FAC) in node-positive breast cancer patients in the south of Iran. Methods: A double blind study was done on a cohort of 100 patients suffering from breast cancer with node-positive over 8 months in the radiotherapy center of

An atlas of G-protein coupled receptor expression and function in human subcutaneous adipose tissue.

G-protein coupled receptors (GPCRs) are involved in the regulation of adipose tissue function, but the total number of GPCRs expressed by human subcutaneous adipose tissue, as well as their function and interactions with drugs, is poorly understood. We have constructed an atlas of all GPCRs expressed by human subcutaneous adipose tissue: the 'adipose tissue GPCRome', to support the exploration of

A novel mechanism for NETosis provides antimicrobial defense at the oral mucosa.

Neutrophils are essential for host defense at the oral mucosa and neutropenia or functional neutrophil defects lead to disordered oral homeostasis. We found that neutrophils from the oral mucosa harvested from morning saliva had undergone NETosis in vivo. The NETosis was mediated through intracellular signals elicited by binding of sialyl lewis(X) present on salival mucins to L-selectin on neutrop

X-ray diffraction strain analysis of a single axial InAs1-xPx nanowire segment.

The spatial strain distribution in and around a single axial InAs1-xPx hetero-segment in an InAs nanowire was analyzed using nano-focused X-ray diffraction. In connection with finite-element-method simulations a detailed quantitative picture of the nanowire's inhomogeneous strain state was achieved. This allows for a detailed understanding of how the variation of the nanowire's and hetero-segment'

Influence of bone remodelling rate on quantitative ultrasound parameters at the calcaneus and DXA BMDa of the hip and spine in middle-aged and elderly European men: the European Male Ageing Study (EMAS)

Objective: To assess the influence of sex hormones on markers of bone turnover and to explore the association between these markers and bone health in middle-aged and elderly European men. Design: A cross-sectional population-based survey. Methods: Men aged 40-79 years were recruited from population registers in eight European centres. Subjects completed a postal questionnaire which included quest

Numerical Investigation of Turbulent Heat Transfer Enhancement in a Ribbed Channel with Upper-downstream-shaped Deflectors

Enhancement of bottom wall forced convection heat transfer rates in a ribbed cooling channel combined with differently shaped deflectors is investigated numerically. Four deflectors, including the sloping board (Case A), convex curved (Case B), concave curved (Case C), and cylindrical (Case D) deflectors, are mounted on the upper-downstream side of the ribs. The heat transfer and flow features are

Is there a potential application of a fermented nutraceutical in acute respiratory illnesses? An in-vivo placebo-controlled, cross-over clinical study in different age groups of healthy subjects.

The role of oxidants in viral diseases is fairly complex because it includes metabolic regulation both of host metabolism and viral replication. However, a role for reactive oxygen species (ROS) and reactive nitrogen species (RNS) as mediators of virus-induced lung damage is supported by studies and antioxidants can thus be expected to act at many different levels. The aim of the present pilot stu

The divided city – a space for frictional peacebuilding

Through the concept of friction, this article critically examines how the liberal peace travels across differences, accommodates, as well as is accommodated by the spaces it engages, and how it transforms, enables or constrains local as well as international agency. As the liberal peace interplays with the post-conflict realities three sites of friction are identified and examined in the divided c

Genetic, non-genetic and epigenetic risk determinants in developmental programming of type 2 diabetes.

Low birthweight (LBW) individuals and offspring of women with gestational diabetes mellitus (GDM) exhibit increased risk of developing type 2 diabetes (T2D) and associated cardiometabolic traits in adulthood, which for both groups may be mediated by adverse events and developmental changes in fetal life. T2D is a multifactorial disease occurring as a result of complicated interplay between genetic

The glucose/xylose facilitator Gxf1 from Candida intermedia expressed in a xylose-fermenting industrial strain of Saccharomyces cerevisiae increases xylose uptake in SSCF of wheat straw

Ethanolic fermentation of lignocellulose raw materials requires industrial xylose-fermenting strains capable of complete and efficient D-xylose consumption. A central question in xylose fermentation by Saccharomyces cerevisiae engineered for xylose fermentation is to improve the xylose uptake. In the current study, the glucose/xylose facilitator Gxf1 from Candida intermedia, was expressed in three

Spectroscopic properties of nuclear skyrme energy density functionals.

We address the question of how to improve the agreement between theoretical nuclear single-particle energies (SPEs) and observations. Empirically, in doubly magic nuclei, the SPEs can be deduced from spectroscopic properties of odd nuclei that have one more or one less neutron or proton. Theoretically, bare SPEs, before being confronted with observations, must be corrected for the effects of the p

Calibration and validation of a modified ASM1 using long-term simulation of a full-scale pulp mill wastewater treatment plant

A mathematical model modified from the well established Activated Sludge Model no. 1 was used for modelling a full-scale wastewater treatment plant (WWTP) in a bleached kraft pulp mill. Effluents from the pulp and paper industry are typically nutrient deficient, which was considered in the model. The wastewater characterization and model calibration were based on respirometric batch experiments wi

Family History of Myocardial Infarction Increases Risk of Renal Dysfunction in Middle Age.

Background/Aims: Chronic kidney disease (CKD) is common in the general population, may lead to end-stage renal disease, and is most frequently found among males. Familial clustering of kidney diseases has been observed. We aimed to study a potential association between the family history of myocardial infarction (MI) and renal dysfunction. Methods: 22,297 males and 10,828 females, aged 33-60 years

Pregnancy rate and outcome in Swedish women with Turner syndrome

Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio 0.43 (95% confidence interval 0.17-1.04). (Fertil Steril (R) 2011; 95: 2507-10. (c) 2011 by American Society for Rep

Quality of life in adult patients with haemophilia - a single centre experience from Sweden.

Summary: Increased or maintained health and quality of life (HRQoL) are essential goals in health care among patients with a chronic disease. To gain an understanding of HRQoL in patients with haemophilia at the Haemophilia Treatment Centre in Malmö, Sweden, patients seen from 2004-2008 were asked to complete the Short form Health Survey, SF-36, also answering to what extent haemophilia, physicall

Multiple independent IgE epitopes on the highly allergenic grass pollen allergen Phl p 5.

Background Group 5 allergens are small proteins that consist of two domains. They belong to the most potent respiratory allergens. Objective To determine the binding sites and to study allergic patients' IgE recognition of the group 5 allergen (Phl p 5) from timothy grass pollen using human monoclonal IgE antibodies that have been isolated from grass pollen allergic patients. Methods Using recom

Artificial neural networks - A method for prediction of survival following liver resection for colorectal cancer metastases.

OBJECTIVE: To construct an artificial neural network (ANN) model to predict survival after liver resection for colorectal cancer (CRC) metastases. BACKGROUND: CRC liver metastases are fatal if untreated and resection can possibly be curative. Predictive models stratify patients into risk categories to predict prognosis and select those who can benefit from aggressive multidisciplinary treatment an

Dynamical self-stabilization of the Mott insulator: Time evolution of the density and entanglement entropy of out-of-equilibrium cold fermion gases

The time evolution of the out-of-equilibrium Mott insulator is investigated numerically through calculations of space-time-resolved density and entropy profiles resulting from the release of a gas of ultracold fermionic atoms from an optical trap. For adiabatic, moderate and sudden switching-off of the trapping potential, the out-of-equilibrium dynamics of the Mott insulator is found to differ pro