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Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation, characterized by hemolytic anemia, thrombocytopenia and acute renal failure. Mutations in complement inhibitors are major risk factors for development of aHUS. The three aHUS patients reported in this study had several previously identified alterations in complement inhibitors; e.g. risk haplotypes in CD46 and fact

Popular Abstract in Swedish Universitet och högskolor har i kölvattnet av ett framväxande kunskapssamhället hamnat under kraftig institutionell press från en förändrad nationell forskningspolitik, de forskningsfinansierande aktörernas förändrade strategier och en snabb och omvälvande vetenskaplig dynamik. Avhandlingen handlar om hur Lunds universitet har reagerat på och hanterat dessa förändringspIn the wake of an emerging knowledge society, universities around the world have come under severe institutional pressure from changing national research policies, financing organizations´ new strategies and turbulent research dynamics. This study examines how Lund University in Sweden manages these institutional pressures. The study explores how the university leadership ? rector and the governin

BACKGROUND: BRCA1 and BRCA2 are the two major susceptibility genes involved in hereditary breast cancer. This study was undertaken to provide reliable population-based estimates of genetic influence and to characterize the nature and prevalence of BRCA1 and BRCA2 germline mutations in early-onset breast cancer.METHODS: In a series comprising all women diagnosed with breast cancer under the age of

The MAKEDEP model is designed to produce the time series of atmospheric deposition and nutrient uptake and cycling needed by dynamic soil chemistry models such as SAFE. A range of new features were implemented in the MAKEDEP model including separate treatment of several tree compartments (e.g. root, stem, bark, branch, canopy) and variable nutrient content in the different compartments. The mo

A diffusion process on complex networks is introduced in order to uncover their large-scale topological structures. This is achieved by focusing on the slowest decaying diffusive modes of the network. The proposed procedure is applied to real-world networks like a friendship network of known modular structure, and an Internet routing network. For the friendship network, its known structure is well

In this paper, we study and compare a number of subspace-based methods for determining the the number of sinusoids in noise. These are based on the subspace orthogonality and and shift-invariance properties that are known from the MUSIC (multiple signal classification) and ESPRIT frequency estimators. The method based on the orthogonality property has not previously appeared in the literature. We

The dissertation explores the relationship between Aby Warburg’s unfinished picture atlas Mnemosyne and the visualization of Art History around 1800/1900 in an attempt to understand the historical conditions regarding the picture atlas and other visual devices constructed by Warburg and his staff at the Kulturwissenschaftlichen Bibliothek Warburg (K.B.W.) in Hamburg during the 1920s. The dissertat

The main objective was to compare short wave radiation from Thorn lamp to solar radiation. In sun all manikin front zones get more or less evenly radiated but in the lab the radiated power reaches some zones more than others. Tests were carried out on the thermal manikin Tore under clear sky in a building corner facing the sun. The manikin was turned so that in the end of each trial the sun faced

Computer-based design analysis is nowadays a common activity in most development projects. Used for design evaluation, verification, validation, or as a support for design exploration, it fulfils an important support function for the engineering designer, thus making it essential to have an operationally efficient and effective integration between both the engineering design and design analysis ac

When developing products, engineering designers often face the problem that their candidate for a technical solution, ranging from a concept to a detailed design, needs to be analyzed by a design analyst before it is approved or rejected and the engineering designer can continue his/her activities within the product development process. If engineering designers have to send every solution candidat

People who have visual impairments may have difficulties navigating freely and without personal assistance, and some are even afraid to go out alone. Current navigation devices with non-visual feedback are quite expensive, few, and are in general focused on routing and target finding. We have developed a test prototype application running on the Android platform in which a user may scan for map in

Background: Hip fracture creates a worldwide morbidity, mortality and economic burden. After surgery, many patients experience long-term disability or die as a consequence of the fracture. A fracture is a major risk factor for a subsequent fracture, which may occur within a short interval. Methods: A literature search on post-fracture management of patients with hip fracture was performed on the M

Aims/hypothesis. The aim of this study was to examine the putative role of mutations in the insulin promoter 1 (IPF1) gene in early-onset diabetes. Methods. We carried out mutation screening of the IPF1 gene in 115 Scandinavian families with at least two members with onset of diabetes younger than 40 years. The allele frequencies were also tested in 183 unrelated patients with late-onset Type II (

X-linked agammaglobulinemia (XLA) is a hereditary defect of B-cell differentiation in man caused by deficiency of Bruton tyrosine kinase (BTK). A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA. As Arg-525 of BTK has been

ABSTRACT Optimal breeding of mice is very important in biomedical science today. The understanding why some strains breed better and some worse enable scientists to create better in vivo models for human diseases. The aim of this thesis was to identify and characterize new genetic regions linked to reproductive performance and autoimmune inflammation in female mice. Collagen-induced arthritis (CIA

The epithelia are the avascular layers of cells that cover the environment-exposed surfaces of the body. It appears that T cells localize to selected sites in or adjacent to epithelia via the selective expression of adhesion molecules and chemokine receptors on T cells. These bind to counter-receptors and to chemokines expressed by epithelial cells. Recently, there has been an advance in our under

The therapeutic potential of glial cell line-derived neurotrophic factor ( GDNF) for Parkinson's disease is likely to depend on sustained delivery of the appropriate amount to the target areas. Recombinant adeno-associated viral vectors ( rAAVs) expressing GDNF may be a suitable delivery system for this purpose. The aim of this study was to define a sustained level of GDNF that does not affect the