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A novel heterozygous mutation in the clusterin gene, nucleotide position A1298C (glutamine>proline Q433P), was detected in exon 7 of a child with recurrent hemolytic uremic syndrome (HUS). The same mutation was found in the child's two siblings and mother but not in 120 controls. In addition, a previously described heterozygous mutation was detected in the gene encoding membrane cofactor protein (
Although biomedical information is growing rapidly, it is difficult to find and retrieve validated data especially for rare hereditary diseases. There is an increased need for services capable of integrating and validating information as well as proving it in a logically organized structure. A XML-based language enables creation of open source databases for storage, maintenance and delivery for di
This paper considers a sensor network where relay nodes cooperate in order to minimize the total energy consumption for the unicast transmission of a message from a single source to a single destination. We assume Destination Energy Accumulation, i.e., the destination can accumulate the energy of multiple copies of the message, each of which is too weak to be reliably decoded by itself, while the
The ABCD rule of dermoscopy was developed to facilitate diagnosis in the dermoscopy of pigmented lesions. However, there is a lack of studies on its validity in clinical practice. The aim of this study was to evaluate the accuracy of the algorithm used bedside, compared with the accuracy of the preliminary preoperative diagnosis, and to rate physicians' level of confidence in the diagnosis. Melano
The shape and features of a typical abbey church of the Birgittine Order are studied, based on the stipulations laid down by St. Birgitta of Sweden herself. The architecture is interpreted as paradigmatic of the kind of spiritual reform that St. Birgitta aimed at.
In this paper we demonstrate the presence of two novel in vivo autophosphorylation sites in the c-Kit/stem cell factor receptor (c-Kit/SCFR): Tyr-703 in the kinase insert and Tyr-936 in the C-terminal tail. We furthermore demonstrate that the adapter protein Grb2 is a specific binding partner for both phosphorylated Tyr-703 and phosphorylated Tyr-936, whereas the adapter protein Grb7 binds selecti
Objective. To study levels of sick leave and disability pension before and after TNF-antagonist therapy in AS patients. Methods. Using the population-based South Swedish Arthritis Treatment Group register, we identified 139 AS patients (aged 18-58 years, 78% men), who between January 2002 and December 2008 started their first treatment with adalimumab, etanercept or infliximab. We linked data to t
Object oriented modeling naturally leads to implicitly defined dynamical systems or, as they are also called, differential algebraic equations (DAEs). Most existing DAE integrators require the equations defining the dynamical system to have a special structure. Progress on the development of a new integrator for general unstructured DAEs is presented. The new integrator is called UCP. Computationa
This article discusses the state of contemporary feminist politics in Sweden.
The complement system constitutes an important component of the innate immune system. To colonize their host and/or to cause disease, many pathogens have evolved strategies to avoid complement-mediated bacterial lysis and opsonophagocytosis. In this study, using a collection of 55 clinical isolates of Streptococcus pneumoniae, we demonstrate for the first time that pneumococci bind the complement
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