Filetype
Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism
The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located
Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domai
Capabilities-based planning and capability assessment are high on the agendas of several countries and organisations as part of their risk management and emergency preparedness. Despite this, few definitions of capability exist, and they are not easily related to concepts such as risk, vulnerability and resilience. The aim of the present study was thus to broaden the scientific basis of the risk f
Purpose of this paper The purpose of this paper is to propose a framework for describing and analyzing misalignments in supply chain management related to changes in supply chain structures, processes, and management components. Design/methodology/approach Based on the systems approach, a single-case study including several embedded cases from the same supply chain was deployed. This was done acc
Type 2 diabetes mellitus (T2D) is a slowly progressive disease that can be postponed or even avoided through lifestyle changes. Recent data demonstrate highly significant correlations between DNA methylation and the most important risk factors of T2D, including age and body mass index, in blood and human tissues relevant to insulin resistance and T2D. Also, T2D patients and individuals with increa
Introduction: Studies have shown that executive dysfunction is common in adults after stroke. Occupational therapists working in acute care assess the performance of activities of daily living; most instruments focus on personal care. However, the assessment of instrumental activities of daily living has been shown to discriminate executive dysfunction more effectively. An instrument for assessing
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an addit
The topics of regional innovation systems (RIS) and cross-border regions attract increasing attention, but few studies combine the themes. Further, the existing empirical studies of cross-border innovation and knowledge creation analyse one case at one point in time, thus, making it difficult to assess the progress of integration in the regions, as well as the effect of cross-border innovation pol
Abstract Pelvic floor disorders (PFD) represent a major public health issue worldwide. Aims of this work Study I: to investigate associations between preoperative resting urethral parameters (MUCP, FL and CA) and objective outcome of laparoscopic colposuspension and, if possible, to identify cutoff values useful in clinical practice. Study II: to investigate a group of perimenopausal women reporti
The customary way to determine whether an adopted Supplemental Instruction (SI) program has been successful or not is by comparing course results for two groups, SI attendees and non-attendees. The division of SI attendees and non-attendees is generally done rather arbitrarily by prescribing a minimum number of SI sessions a student has to attend to be considered an SI attendee. Although the SI at
Business organizations may expand internationally by replicating a part of their value chain, such as a sales and marketing format, in other countries. However, little is known regarding how such "international replicators" build a format for replication, or how they can adjust it in order to adapt to local environments and under the impact of new learning. To illuminate these issues, we draw on a
