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Angioedema is a potentially life-threatening adverse reaction to angiotensin converting enzyme inhibitors and angiotensin receptor blockers. To study the genetic etiology of this rare adverse event, international consortia and multicentre recruitment of patients are needed. To reduce patient heterogeneity, we have standardised the phenotype. In brief, it comprises swelling in the head and neck reg
Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor. Two recurrent genetic aberrations have been described in CCSK. One is a fusion of YWHAE and NUTM2B/E, the other is an internal tandem duplication (ITD) in the BCOR gene. Here it is shown that YWHAE-NUTM2B/E fusion and the BCOR ITD are mutually exclusive events and activated different downstream signaling syste
Heart fatty acid binding protein (HFABP) is expressed in the brain and is elevated in cerebrospinal fluid (CSF) from patients with several forms of neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease with dementia, Lewy body dementia, vascular dementia (VaD), and Creutzfeldt-Jakob disease. However, whether HFABP in CSF is a stable biomarker or if it can help predict co
Calmodulin is a two-domain signaling protein that becomes activated upon binding cooperatively two pairs of calcium ions, leading to large-scale conformational changes that expose its binding site. Despite significant advances in understanding the structural biology of calmodulin functions, the mechanistic details of the conformational transition between closed and open states have remained unclea
Measurements of inclusive jet production are performed in pp and Pb+Pb collisions at sqrt[s_{NN}]=2.76 TeV with the ATLAS detector at the LHC, corresponding to integrated luminosities of 4.0 and 0.14 nb^{-1}, respectively. The jets are identified with the anti-k_{t} algorithm with R=0.4, and the spectra are measured over the kinematic range of jet transverse momentum 32
Abstract Alpha-1-antitrypsin (AAT) deficiency is a genetic risk factor for pulmonary emphysema. In 1972-74 all 200,000 Swedish new-born infants were screened for AAT deficiency. The aim of the present study was to investigate whether the PiZZ and PiSZ individuals identified by this screening have signs of emphysema and the role of smoking in this, compared with a random sample of control subjects
This study examines the influence of health conditions experienced during the individual's first year of life on the incidence of sickness absence during adulthood. Using a sample of approximately 9000 biological siblings from 17 countries of origin and living in Sweden during the time period 1981-1991, sibling fixed effect models are estimated. This approach is combined with the use of an exogeno
Published prospective pediatric exercise intervention studies are short term and use skeletal traits as surrogate endpoints for fractures, whereas other reports infer exercise to be associated with more trauma and fractures. This prospective, controlled exercise intervention study therefore followed both skeletal traits and fracture risk for 36 months. Fractures were registered in children aged 7
The third, updated electronic version of the world list of cetrarioid lichens (http://esamba.bo.bg.ut.ee/checklist/cetrarioid/home.php) contains more than 570 names representing 149 accepted species. It is based on a FileMaker powered database, allowing users to view data in different sets and to perform searches. The list presents new information about the phylogenetic status of accepted taxa, an
Purpose - The employment of continuous ribs in a passage involves a noticeable pressure drop penalty, while other studies have shown that truncated ribs may provide a potential to reduce the pressure drop while keeping a significant heat transfer enhancement. The purpose of this paper is to perform computer-aided simulations of turbulent flow and heat transfer of a rectangular cooling passage with
The inclusive production of D*(+/-)(2010) mesons in deep-inelastic e(+/-)p scattering is measured in the kinematic region of photon virtuality 100 < Q(2) < 1000 GeV2 and inelasticity 002 < y < 0 7 Single and double differential cross sections for inclusive D* meson production are measured in the visible range defined by vertical bar eta(D*)vertical bar < 1 5 and p(gamma)(D*) > 1 5 GeV The data wer
Deputation compounds (DCs) are added to passive air samplers (PAS) prior to deployment to account for the wind-dependency of the sampling rate for gas-phase compounds. This correction is particularly useful for providing comparable data for samplers that are deployed in different environments and subject to different meteorological conditions such as wind speeds. Two types of PAS-the polyurethane
Reproductive events are associated with important physiologic changes, yet little is known about how reproductive factors influence long-term health in women. Our objective was to assess the relation of reproductive characteristics with all-cause and cause-specific mortality risk.
Repeated exposure to certain low molecular weight (LMW) chemical compounds may result in development of allergic reactions in the skin or in the respiratory tract. In most cases, a certain LMW compound selectively sensitize the skin, giving rise to allergic contact dermatitis (ACD), or the respiratory tract, giving rise to occupational asthma (OA). To limit occurrence of allergic diseases, efforts
Inter-pigment interactions define the functioning of light-harvesting protein complexes. To describe the particularly complex molecular dynamics and interactions of peridinin and chlorophyll in the peridinin chlorophyll protein of Amphidinium carterae, we applied global and target analysis to a series of ultrafast transient absorption experiments. We have created and validated a model that consist
We present extended spectroscopic analysis of pharmaceutical tablets in the close near infrared spectral range performed using broadband photon time-of-flight (PTOF) absorption and scattering spectra measurements. We show that the absorption spectra can be used to perform evaluation of the chemical composition of pharmaceutical tablets without need for chemo-metric calibration. The spectroscopic a
Background: Irritable bowel syndrome (IBS) and gastrointestinal (GI) dysmotility disorders have a similar clinical picture, although dysmotility disorders require the attention of a specialist. Patients with primary Sjogren's syndrome (pSS) have also been described to suffer from IBS-like symptoms. No objective marker is available to distinguish between the patients. A visual analogue scale has be
