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Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the h

Smoking is the main risk factor for COPD (chronic obstructive pulmonary disease) but genetic factors are of importance, since only a subset of smokers develops the disease. Sex differences have been suggested both in disease prevalence and response to environmental exposures. Furthermore, it has been shown that acquisition of 'addiction' to smoking is partly genetically mediated. Disease cases and

Cervical cancer remains a significant public health concern, both at a global and a European level. A number of new technologies such as diagnostic tests for human papillomavirus (HPV) have a potential to assist with the reduction of this disease. However, both the efficacy and the cost-effectiveness of these new technologies must be established in properly designed trials before they can be imple

It is clinically important to estimate the size of a myocardial infarction (MI) to predict patient prognosis, to determine the ability of a therapy to limit its size, and to evaluate its effect on left ventricular function. Various electrocardiographic methods have been used for these purposes but their accuracies have not been compared with each other using an identical reference population of an

Objective: To evaluate the internal consistency of the Hip disability and Osteoarthritis Outcome Score-Physical Function Short-form (HOOS-PS) and the Knee injury and Ostecarthritis Outcome Score-Physical Function Short-form (KOOS-PS) in total hip replacement (THR) and total knee (TKR) replacement. Construct validity and responsiveness were compared to the Western Ontario McMaster Universities' Ost

Human embryonic stern cells (hESC) are now routinely cultured in many laboratories, and differentiation protocols are available to generate a large variety of cell types. In all ongoing ethical debate opinions of different groups are based oil varying sets of religious, historical, cultural and scientific arguments as well as oil widely differing levels of general information. We here give all ove

Popular Abstract in Swedish Forskning och studier av ytvattensystem i sudanesiska röda havsområdet för utveckling av relevant metodik medför ett antal konceptuella svårigheter. Ett huvudsakligt problem är den begränsade tillgången till litteratur och mätdata för modellutveckling. En annan svårighet är tillämpligheten av redan existerande metoder och modeller utvecklade i andra regioner. För att bThe magnitude and availability of surface waters in the arid/semi-arid Sudanese Red Sea region has been examined. In conjunction with the research objective, opinions and methodologies applied by previous researchers have been assessed. The study applied a geographical hydrological synthesis within a GIS framework. As a system with advanced geo-modelling capabilities, GIS is used to integrate spat

Introduction: Vertebral fracture is a strong risk factor for future spine and hip fractures; yet recent data suggest that only 5-20% of subjects with a spine fracture are identified in primary care. We aimed to develop easily applicable algorithms predicting a high risk of future spine fracture in men and women over 50 years of age. Methods: Data was analysed from 5,561 men and women aged 50+ year

Lysine-specific chemical crosslinking in combination with mass spectrometry is emerging as a tool for the structural characterization of protein complexes and protein-protein interactions. After tryptic digestion of crosslinked proteins there are thousands of peptides amenable to MSMS, of which only very few are crosslinked peptides of interest. Here we describe how the advantage offered by off-li

Background. Tissue transglutaminase (tTG) autoantibodies are serological markers for celiac disease. The aim was to study the efficacy of the pTnT-rhtTG plasmid and subsequent diagnostic accuracy of tTG autoantibodies for childhood celiac disease using radioligand binding assays. Methods. Coupled in vitro transcription and translation of tTG were performed by pTnT-rhtTG as well as by the pGEMt Eas

BACKGROUND: There is little consensus on a standard approach to analysing bone scan images. The Bone Scan Index (BSI) is predictive of survival in patients with progressive prostate cancer (PCa), but the popularity of this metric is hampered by the tedium of the manual calculation. OBJECTIVE: Develop a fully automated method of quantifying the BSI and determining the clinical value of automated

Abstract: The electroweak production and subsequent decay of single top quarks is determined by the properties of the Wtb vertex. This vertex can be described by the complex parameters of an effective Lagrangian. An analysis of angular distributions of the decay products of single top quarks produced in the t -channel constrains these parameters simultaneously. The analysis described in this paper

Flux footprint models are often used for interpretation of flux tower measurements, to estimate position and size of surface source areas, and the relative contribution of passive scalar sources to measured fluxes. Accurate knowledge of footprints is of crucial importance for any upscaling exercises from single site flux measurements to local or regional scale. Hence, footprint models are ultimate