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Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorptive function of IMO osteoclasts by lentiviral mediated gene transfer of the TCIRG1 cDNA. CD34(+) cel

While many earlier studies have found that people's maximum willingness to pay for having a good is often substantially lower than their minimum willingness to accept not having it, more recent experimental evidence suggests that this discrepancy vanishes for standard consumption goods when an incentive-compatible design without misconceptions is used. This paper hypothesises that there is neverth

The objective of this work was to describe requirements for inclusion of soluble biomarkers in osteoarthritis (OA) clinical trials and progress toward OA-related biomarker qualification. The Guidelines for Biomarkers Working Group, representing experts in the field of OA biomarker research from both academia and industry, convened to discuss issues related to soluble biomarkers and to make recomme

We present the generating function approach to the perturbative exponentiation of correlators of a product of Wilson lines and loops. The exponentiated expression is presented in closed form as an algebraic function of correlators of known operators, which can be seen as a generating function for web diagrams. The expression is naturally split onto two parts: the exponentiation kernel, which accum

Background Recent evidence points to partially shared genetics of neuropsychiatric disorders. Aims We examined risk of intellectual disability and other neuropsychiatric outcomes in 3174 children of mothers with schizophrenia, bipolar disorder or unipolar major depression compared with 3129 children of unaffected mothers. Method We used record linkage across Western Australian population-based reg

We present pollen-based reconstructions of the spatio-temporal dynamics of northern European regional vegetation abundance through the Holocene. We apply the Regional Estimates of VEgetation Abundance from Large Sites (REVEALS) model using fossil pollen records from eighteen sites within five modern biomes in the region. The eighteen sites are classified into four time-trajectory types on the basi

The online-coupled, regional chemistry transport model COSMO-ART is evaluated for periods in all seasons against several measurement datasets to assess its ability to represent gaseous pollutants and ambient aerosol characteristics over the European domain. Measurements used in the comparison include long-term station observations, satellite and ground-based remote sensing products, and complex da

Rye breads made from commercial rye blends lower the postprandial insulin demand and appear to facilitate glucose regulation. However, differences in metabolic responses may occur between rye varieties. In the present work, five rye varieties (Amilo, Evolo, Kaskelott, Picasso. and Vicello) and a commercial blend of rye grown in Sweden were investigated with regard to their postprandial insulin, gl

The formation of amyloid fibrils by the intrinsically disordered protein alpha-synuclein is a hallmark of Parkinson disease. To characterize the microscopic steps in the mechanism of aggregation of this protein we have used in vitro aggregation assays in the presence of preformed seed fibrils to determine the molecular rate constant of fibril elongation under a range of different conditions. We sh

PURPOSE: To examine the expression of interstitial extracellular matrix components and their role during retinal development. MATERIAL AND METHODS: Fibronectin (FN), collagen IV (Coll IV) and laminin 5 (Lam 5) expression in rat retinas from developmental stages E17 to adult were studied. In addition, PN5 full-thickness retinas were cultured for 7 days with dispase, which selectively cleaves FN and

Epidemic keratoconjunctivitis (EKC) is a severe disease of the eye, caused by members of the Adenoviridae (Ad) family, with symptoms such as keratitis, conjunctivitis, pain, edema, and reduced vision that may last for months or years. There are no vaccines or antiviral drugs available to prevent or treat EKC. It was found previously that EKC-causing Ads use sialic acid as a cellular receptor and d

Aim A defunctioning loop ileostomy in low anterior resection reduces the incidence and morbidity of an anastomotic leakage, but complications related to the stoma may occur. We explored stoma-associated complications during the stoma period and after stoma reversal. Methods A retrospective analysis of rectal cancer patients operated with low anterior resection and a defunctioning loop ileostomy at

The European Spallation Source (ESS) is an intergovernmental project building a multidisciplinary research laboratory based upon the world's most powerful neutron source to be built in Lund, Sweden. The ESS will use a superconducting linear accelerator which will deliver protons with 5 MW of power to the target at 2.0 GeV with a nominal current of 62.5 mA. A cryomodule test stand will be supplied

We have investigated the accumulation capacitance-voltage characteristics for capacitors with narrow band gap materials using modeling and experiments. The capacitance for InAs and In0.53Ga0.47As capacitors with a HfO2 oxide layer has been calculated using atomistic tight-binding, effective mass, and semiclassical nonparabolic models. The simulations show that band structure effects have a strong

Detailed (222)radon (Rn-222) flux maps are an essential pre-requisite for the use of radon in atmospheric transport studies. Here we present a high-resolution Rn-222 flux map for Europe, based on a parameterization of Rn-222 production and transport in the soil. The Rn-222 exhalation rate is parameterized based on soil properties, uranium content, and modelled soil moisture from two different land

Our tactile perception of external objects depends on skin-object interactions. The mechanics of contact dictates the existence of fundamental spatiotemporal input features-contact initiation and cessation, slip, and rolling contact-that originate from the fact that solid objects do not interpenetrate. However, it is unknown whether these features are represented within the brain. We used a novel

Hypersonic vehicles have to withstand extremely high aerodynamic heating and pressure loads during the ascent and reentry stages. Multilayer thermal insulations have been widely designed in thermal protection systems to keep the temperature of underlying structure within an acceptable limit. In this study, a theoretical model is built combining radiation and conduction heat transfer in high temper