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Whether chromosome abnormalities observed in tumor cells may in some cases reflect low-grade somatic mosaicism for anomalies present already at zygote formation, rather than acquired somatic mutations, has for long remained a speculation. We here report a patient with Wilms tumor, where constitutional somatic mosaicism of trisomy 8 was detected in a previously healthy 2 ½-year-old boy. Single Nucl
Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with
The main purpose of the recently introduced Bürger-Diehl simulation model for secondary settling tanks was to resolve spatial discretization problems when both hindered settling and the phenomena of compression and dispersion are included. Straightforward time integration unfortunately means long computational times. The next step in the development is to introduce and investigate time-integration
We use a 2-dimensional (2-D) Vernier gated-ring-oscillator (GRO) time-to-digital-converter (TDC) in a cascade structure (MASH), so that a larger raw quantization step can be allowed without sacrificing the final resolution performance. The 2-D approach effectively reduces the latency time under a large input, while the MASH structure provides a 2nd-order noise shaping that produces a lower in-band
Leukocyte migration into the epithelial compartment is an important feature in the active phase of mycobacterial infections. In this study, we used the Transwell model to investigate the mechanisms behind mycobacteria-induced leukocyte recruitment and investigated the role of TLR2 and TLR4 in this process. Infection of epithelial cells resulted in significantly increased secretion of the neutrophi
Over the last decade, a great variety of visionary ideas and beliefs have been brought forward, regarding the potentials of using computer games as a tool for learning and mediation in educational settings. This thesis aims at contributing to research in this field, by empirically exploring what happens when students play and reflect on their computer game play in science education. Three empirica
For a prepared state exact expressions for the time-dependent mean fidelity as well as for the mean inverse participation ratio are obtained analytically. The prepared state is taken as an eigenstate of the unperturbed system, and the studied fidelity is identical to the survival probability. The full distribution functions of fidelity in the long-time limit and of inverse participation ratio are
In this study, five different flexible osmium based redox polymers were investigated for their ability to efficiently "wire" the oxidoreductase pyranose dehydrogenase (PDH, EC 1.1.99.29) from Agaricus meleagris, on graphite electrodes for possible applications in biofuel cells. A series of newly synthesised osmium based redox polymers covering the potential range between -270 and +160mV vs. Ag|AgC
On the basis of a T = 1 icosahedral capsid model, the capsomer-polyion co-assembly process has been investigated by molecular dynamics simulations using capsomers with different net charge and charge distribution as well as linear, branched, and hyper-branched polyions. The assembly process was characterized in terms of the time-dependent cluster size probabilities, averaged cluster size, encapsul
Psychoanalysis opens a variety of windows into understanding contemporary consumption and consumerism. The psychoanalytic theory of defence and the unconscious enables us to understand why commodities, from fast cars to luxury chocolate, so readily stand in to offer substitute gratification for deeper repressed desires and why the meaning of such commodities is liable to become mobile and unstable
Metformin is a widely used antidiabetic drug associated with the rare side effect of lactic acidosis which has been proposed to be linked to drug-induced mitochondrial dysfunction. Using respirometry, the aim of this study was to evaluate mitochondrial toxicity of metformin to human blood cells in relation to that of phenformin, a biguanide analogue withdrawn in most countries due to a high incide
We present high-precision relative radial velocities of the very low mass star VB 10 that were obtained over a time span of 0.61 years as part of an ongoing search for planets around stars at the end of the main sequence. The radial velocities were measured from high-resolution near-infrared spectra obtained using the CRIRES instrument on the Very Large Telescope with an ammonia gas cell. The typi
Background: The association of dyslipidaemia with incidence of coronary heart disease (CHD) has not been well studied in people with different glucose categories. Methods: Data from six population-based prospective studies in Finland and Sweden, with 4818 men and 4269 women aged 25-89 years who were free of CHD and without a prior history of diabetes at baseline, were jointly analysed. Multivariat
Carotid intima media thickness (IMT) progression is increasingly used as a surrogate for vascular risk. This use is supported by data from a few clinical trials investigating statins, but established criteria of surrogacy are only partially fulfilled. To provide a valid basis for the use of IMT progression as a study end point, we are performing a 3-step meta-analysis project based on individual p
Conceptually, the Satisfaction with Life Scale (SWLS; Diener et al. in J Pers Assess 49(1):71–75, 1985) emphasizes evaluations comparing actual and expected life circumstances. Contrastingly we developed the Harmony in Life Scale (HILS) emphasiz-ing psychological balance and flexibility in life. Study 1 (476 participants) developed the HILS. In Study 2 participants (N = 787, T1; N = 545, T2) answe
