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Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. Methods: In th
The N-methyl-d-aspartate receptor (NMDAR) coagonists glycine, d-serine and l-proline play crucial roles in NMDAR-dependent neurotransmission and are associated with a range of neuropsychiatric disorders. We conducted the first genome-wide association study of concentrations of these coagonists and their enantiomers in plasma and cerebrospinal fluid (CSF) of human subjects from the general populati
BackgroundPrimary brain tumors, in particular glioblastoma (GBM), remain among the most challenging cancers. Like most malignant tumors, GBM is characterized by hypoxic stress that triggers paracrine, adaptive responses, such as angiogenesis and macrophage recruitment, rescuing cancer cells from metabolic catastrophe and conventional oncological treatments. The unmet need of strategies to efficien
Background: Accurate assessment of polyphenol intakes is needed in epidemiologic research in order to study their health effects, and this can be particularly challenging in international study settings. Objective: The purpose of this work is to describe the procedures to prepare a comprehensive polyphenol food-composition database that was used to calculate standardized polyphenol intakes from 24
Sjögren's syndrome (SjS) is a systemic autoimmune disease that mainly affects the exocrine glands, leading to generalized mucosal dryness. However, primary SjS may initially present with non-sicca (systemic) manifestations. When these features appear before the onset of an overt sicca syndrome, we may talk of an underlying 'occult' SjS. The European League Against Rheumatism (EULAR) has promoted a
Glucagon secretion is inhibited by glucagon-like peptide-1 (GLP-1) and stimulated by adrenaline. These opposing effects on glucagon secretion are mimicked by low (1-10 nM) and high (10 muM) concentrations of forskolin, respectively. The expression of GLP-1 receptors in alpha cells is <0.2% of that in beta cells. The GLP-1-induced suppression of glucagon secretion is PKA dependent, is glucose indep
Popular Abstract in Swedish Diabetes är en kronisk ämnesomsättningsrubbning, med en förhöjd nivå av cirkulerande blodsocker som ett av dess första kännetecken. Sjukdomen bygger på det faktum att kroppens olika celler är beroende av hormonet insulin för att kunna ta emot och tillgodogöra sig det näringsgivande sockret glukos. Således, för att kunna bibehålla en normal blodsockernivå krävs två förutIn view of unsolved issues regarding cellular events underlying the adaptation of insulin secretion to insulin resistance, together with the observation that insulin secretion induced by the gastrointestinal hormone and neuropeptide cholecystokinin (CCK) is not solely explained by phospholipase C-protein kinase C (PLC-PKC) pathway activation, this study aimed at delineate mechanisms responsible fo
The response of tundra plants to enhanced UV-B radiation simulating 15 and 30% ozone depletion was studied at two high arctic sites (Isdammen and Adventdalen, 78 degrees N, Svalbard).The set-up of the UV-B supplementation systems is described, consisting of large and small UV lamp arrays, installed in 1996 and 2002. After 7 years of exposure to enhanced UV-B radiation, plant cover, density, morpho
Background The European Randomized Study of Screening for Prostate Cancer was initiated in the early 1990s to evaluate the effect of screening with prostate-specific-antigen (PSA) testing on death rates from prostate cancer. Methods We identified 182,000 men between the ages of 50 and 74 years through registries in seven European countries for inclusion in our study. The men were randomly assigned
Chronic obstructive pulmonary disease (COPD) independently associates with an increased risk of coronary artery disease (CAD), but it has not been fully investigated whether this co-morbidity involves shared pathophysiological mechanisms. To identify potential common pathways across the two diseases, we tested all recently published single nucleotide polymorphisms (SNPs) associated with human lung
Background: Colon capsule endoscopy (CCE) represents a noninvasive technology that allows visualization of the colon without requiring sedation and air insufflation. A second-generation colon capsule endoscopy system (PillCam Colon 2) (CCE-2) was developed to increase sensitivity for colorectal polyp detection compared with the first-generation system. Objective: To assess the feasibility, accurac
How can tools help structure tasks to make them cognitively easier to perform? How do artefacts, and our strategies for using them, develop over time in cognitively beneficial ways? These are two of the main questions that are explored in the five papers collected in this thesis. The first paper details an ethnographic study conducted on people cooking in their homes. The study is a first pass ov
At ISOL ( Isotope Separator On-Line) facilities, which utilize thick primary production targets, beams of neutron-rich iron isotopes are dificult to obtain due to the long extraction time of these isotopes out of the target matrix. At REX-ISOLDE, an exploratory experiment was carried out to investigate the possibility of producing a post-accelerated beam of neutron-rich iron isotopes by the in-tra
Objectives To perform fine mapping of the autoimmunity susceptibility gene BLK and identify functional variants involved in systemic lupus erythematosus (SLE). Methods Genotyping of 1163 European SLE patients and 1482 controls and imputation were performed covering the BLK gene with 158 single-nucleotide polymorphisms. Logistic regression analysis was done using PLINK and conditional analyses usin
Here for the first time, we detail self-contained (wireless and self-powered) biodevices with wireless signal transmission. Specifically, we demonstrate the operation of self-sustained carbohydrate and oxygen sensitive biodevices, consisting of a wireless electronic unit, radio transmitter and separate sensing bioelectrodes, supplied with electrical energy from a combined multi-enzyme fuel cell ge
Popular Abstract in Swedish Avhandlingen behandlar inlärning av italienska som ett av två modersmål (svenska/italienska) hos tvåspråkiga barn och som andraspråk hos svenska vuxna som lär sig italienska i Italien. Särksilt fokus ligger på ett barn som lär sig italienska som ett av två modersmål i Sverige och vi ställer oss frågan om hans italienska kommer att utvecklas som hos italienska enspråkigaThis thesis deals with the development of the DP (the Determiner Phrase) in bilingual first (2L1) and in adult second (L2) language acquisition of Italian, with a focus on a case study of Italian as a second first language. The thesis suggests that the bilingual children and the Swedish adult learners develop the Italian DP differently. The child acquiring Italian as a second first language develo
Background: Terra preta do indio or 'dark earth' soils formed as a result of a long-term addition of organic matter by indigenous peoples in Amazonia. Aims: Here we report on the first study of productivity, allocation and carbon cycling from a terra preta plot in eastern Amazonia (Caxiuana, Para, Brazil), and contrast its dynamics with a nearby plot on infertile soil (ferralsols). Methods: We det
The RUBICODE project draws on expertise from a range of disciplines to develop and integrate frameworks for assessing the impacts of environmental change on ecosystem service provision, and for rationalising biodiversity conservation in that light. With such diverse expertise and concepts involved, interested parties will not be familiar with all the key terminology. This paper defines the terms a
The response of terrestrial ecosystems to rising atmospheric CO2 concentration (Ca), particularly under nutrient-limited conditions, is a major uncertainty in Earth System models. The Eucalyptus Free-Air CO2 Enrichment (EucFACE) experiment, recently established in a nutrient- and water-limited woodland presents a unique opportunity to address this uncertainty, but can best do so if key model uncer
