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Mutations in the BRCA1 and BRCA2 genes significantly contribute to hereditary breast cancer and ovarian cancer, but the phenotypic effect from different mutations is insufficiently recognized. We used a western Danish clinic-based cohort of 299 BRCA families to study the female cancer risk in mutation carriers and their untested first-degree relatives. Founder mutations were characterized and the
The programmability of modern graphics processing units (GPUs) provide great flexibility for creating a wide range of advanced effects for interactive graphics. Developing such effects requires writing not only shader code to be executed by the GPU but also supporting code in the application where the effect is to be used. This support code creates dependencies between effects and the applications
During the last century, mankind has introduced electricity and during the very last decades, the microwaves of the modern communication society have spread a totally new entity--the radiofrequency fields--around the world. How does this affect biology on Earth? The mammalian brain is protected by the blood-brain barrier, which prevents harmful substances from reaching the brain tissue. There is e
Over the last few decades, extensive studies by several groups have introduced the concept of cell-derived secreted extracellular membrane vesicles as carriers of complex molecular information. Owing to their pleiotropic biological effects and involvement in a wide variety of biological processes, extracellular membrane vesicles have been implicated in physiological as well as pathological events,
Comment on: Pfisterer U, et al. Proc Natl Sci USA 2011; 108:10343-8.
The purpose of this article is to launch a new conceptual design tool in rehabilitation engineering,technology, and Disability Studies, useful both as guidance and help for people with disabilities inanalyzing their own functional aids, and as inspiration and meta-guidelines for designers. It is nondiscriminatingand classification-free and differs from a mere classification system like theInternat
Severe asthma is a heterogeneous syndrome. Classification of asthma into phenotypes and endotypes can improve understanding and treatment of the disease. Identification and utilization of biomarkers, particularly those linked to T2 inflammation, can help group patients into phenotypes, predict those who will respond to a specific therapy, and assess the response to treatment.
SUMO4 M55V, located in IDDM5, has been a focus for debate because of its association to type I diabetes (TIDM) in Asians but not in Caucasians. The current study aims to test the significance of M55V association to TIDM in a large cohort of Swedish Caucasians, and to test whether M55V is associated in those carrying human leukocyte antigen (HLA) class II molecules. A total of 673 TIDM patients and
A negative linear association between androgen receptor (AR) function and the CAG repeat numbers is generally assumed. However, in vivo data concerning the association between CAG number and androgenic effects have been conflicting. Since former in vitro studies mostly have been based on extreme CAG lengths and reporter-systems containing viral promoters, the objective of this study was to investi
Right ventricular heart rupture is a devastating complication associated with negative pressure wound therapy (NPWT) in cardiac surgery. The use of a rigid barrier has been suggested to offer protection against this lethal complication by preventing the heart from being drawn up and damaged by the sharp sternum bone edges. The aim of this study was to investigate the haemodynamic effects of placin
Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.
Women with breast cancer and micrometastases only constitute a treatment dilemma. If only a micrometastasis is found in a sentinel lymph node, an axillary lymph node dissection may be considered to be overtreatment and perhaps could be avoided. However, studies have shown decreased survival in patients with micrometastases only. This paper focuses on the pathological work-up behind the classificat
This electrophysiological study investigated how right- and left-edge prosodic boundary tones interact in the processing of syntactic structure. Swedish sentences of the type ‘Peter hit Larry(NP2) and Jason(NP3) fell/hard...’ were used. A verb (‘fell’) requires a clause boundary between NP2 and NP3, whereas an adverb (‘hard’) implies continuation of the first clause, which incorporates NP3 as a co
Although the genetic causes of monogenic disorders have been successfully identified in the past, the success in dissecting the genetics of complex polygenic diseases has until now been limited. With the introduction of whole genome wide association studies (WGAS) in 2007, the picture has been dramatically changed. Today we know of about 20 genetic variants increasing the risk of type 2 diabetes (
Objectives: Autonomic dysfunction (AD) is a complication of diabetes and may be associated with troubling symptoms and increased mortality. Commonly, AD is detected by objective physiological tests and only recently, a validated self-completed English questionnaire assessing AD symptoms, the Autonomic Symptom Profile (ASP), was developed. The aims of this study were to translate the ASP into Swedi
