Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders1-7 and who may consequently have increased disease risk. Previous studies of rare variants in phenotypically extreme individuals display ascertainment bias and may demonstrate inflated effect-size estimates8-12. We sequenced seven genes for maturity-onset diabetes o

Educational software in which the student takes the role of teacher and instructs a digital tutee a so-called teachable agent has repeatedly proven to have positive effects for school children's learning. In a study with 39 preschoolers aged 3:9 to 6:3, we explored the conditions under which children this young would benefit as well from this kind of educational software. We specifically investiga

We report on synchrotron-based high-repetition rate ultrafast x-ray diffraction (UXRD) experiments monitoring the transport of heat from an epitaxial La0.7Sr0.3MnO3/SrTiO3 superlattice (SL) into the substrate on timescales from 100 ps to 4 mu s. Transient thermal lattice expansion was determined with an accuracy of 10(-7), corresponding to a sensitivity to temperature changes down to 0.01 K. We fo

During a few days at the end of November 1926, the Möllevången neighborhood in Malmö was the scene of violent confrontations between thousands of demonstrators and a large part of the city police force. Behind these demonstrations lay an industrial conflict, begun early in July that year at A. W. Nilsson factory. The workers went on strike, and a week or so later the factory owner employed a local

Stroke and in this case cerebral infarction affects 20 million people each year and five million of them die. In Sweden 30-35000 people will be affected and one of three of them will be severely disabled. In addition, one of six will suffer a new stroke within six years. The cause of stroke is usually a vessel in the brain that is blocked, resulting in massive neuronal cell death. Since treatment

We pursued the following three interconnected points: (1) there are unexplored opportunities for resilience scholars from different disciplines to cross-inspire and inform, (2) a systems perspective may enhance understanding of human resilience in health and social settings, and (3) resilience is often considered to be fractal, i.e., a phenomenon with recognizable or recurring features at a variet

The objective of this study was to examine to what extent ergonomics simulations of manual assembly tasks correctly predict the real outcomes in the plants and if recommended measures originating from ergonomics simulations are taken into consideration. 155 ergonomics simulation cases were used in the study and all cases were performed by nine simulation engineers at Volvo Car Corporation in Gothe

Popular Abstract in English In an organism the DNA contains the entire biological information that is needed to be able to exist and function. Those segments, also known as DNA sequences are a genetic code, which is further packaged into units called genes. The entity of all genes is called genome. Today we know, that only a small proportion of genes encode for proteins, which are responsible for More than 90% of DNA does not code for proteins and for a long time these sequences were referred to as “junk DNA” due to their unknown purpose. With the advent of new technologies it is now known, that the non-coding part of the genome is of great importance for regulating gene expression and is therefore indispensable. Transposable elements comprise about 50% of the genome and co-exist as symbio

Popular Abstract in Swedish Livmoderhalscancer är den näst vanligaste cancern för kvinnor i världen, över 500 000 kvinnor insjuknar varje år. Varje år dör dessutom 275 000 kvinnor av denna sjukdom. De flesta av de som insjuknar och dör bor i utvecklingsländer. I Sverige drabbas ca 400 kvinnor varje år. På sextiotalet i Sverige började vi screena för denna cancertyp i Sverige. Detta genom hälsokonCervical cancer is the fourth most common reason for cancer death amongst women worldwide, with 500 000 new cases every year. Most of these women live in developing countries. Cervical screening programs can reduce the incidence by 50%, but are not common in the developing world. In Sweden there are approximately 400 new cases of cervical cancer yearly, despite the existence of a screening program

The role of the genome in the assembly of icosahedral viral capsids has been investigated by molecular dynamics simulation of a coarse-grained model, in which the capsomers carry explicit charges and the polynucleic acid is represented by a bead-spring chain. The co-assembly process was contrasted with the self-assembly of uncharged capsomers. In the co-assembly, the capsomers first associated to

For the assessment of personal exposure, information about the concentration of pollutants when people are in given indoor environments (occupancy time) are of prime importance. However this kind of data frequently is not reported. The aim of this study was to assess differences in particle characteristics between occupancy time and the total monitoring period, with the latter being the most frequ

The use of a transport system for out-oftreatment room set-up in external beam radiotherapy has been verified. We have looked into the vibrations which a patient is subject to during movement of the trolley as well as the accuracy achieved when using a reclining table for patient set-up and immobilization. The accuracy that can be achieved by the reclining approach is compared to conventional meth

Context. New instrumental capabilities and the wealth of astrophysical information extractable from the near-infrared wavelength region have led to a growing interest in the field of high resolution spectroscopy at 1-5 mu m. Aims. We aim to provide a library of observed high-resolution and high signal-to-noise-ratio near-infrared spectra of stars of various types throughout the Hertzsprung-Russell

Power and energy consumption, today essential in all types of systems, can be reduced by scaling the voltage/frequency at runtime and/or powering down idle components. Efficient management requires not only pertinent decisions, but also early access to workload information, as well as domain specific solutions. This paper focuses on runtime energy management for streaming applications running on m

Objectives To describe the sonographic characteristics of borderline ovarian tumor (BOT) recurrence. Methods From the databases of five ultrasound centers, we retrospectively identified 68 patients with histological diagnosis of recurrent BOT who had undergone preoperative ultrasound examination. All recurrences were detected during planned follow-up ultrasound examinations. Recurrent lesions were

Popular Abstract in English According to the International Diabetes Federation (IDF), 415 million people suffer from diabetes worldwide. Diabetes occurs when the pancreatic beta cells are no longer able to produce or properly use insulin. Insulin regulates blood glucose levels by enabling glucose uptake into cells, providing the body with energy. Elevated glucose levels cause damages to highly vasDiabetes mellitus is metabolic disorder caused by a defect or lack of beta cell-produced insulin that controls blood glucose homeostasis. In addition to glucose, insulin secretion is regulated by the autonomic nervous system (ANS); the neurotransmitter acetylcholine as well as monoamines, such as dopamine, serotonin, melatonin and norepinephrine. Using a MafA mutant mouse model, we show that MafA