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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
The immobilization of functional biomolecules to surfaces is a critical process for the development of biosensors for disease diagnostics. In this work we report the patterned attachment of single chain fragment variable (scFv) antibodies to the surface of metal oxides by the photodeprotection of self-assembled monolayers, using near-UV light. The photodeprotection step alters the functionality at
Reality TV is popular entertainment. And yet a common way to start a conversation about it is ‘I wouldn’t want anyone to know this but…’ Why do people love and love to hate reality TV? This book explores reality TV in all its forms - from competitive talent shows to reality soaps - examining a range of programmes from the mundane to those that revel in a spectacle of excess. Annette Hill’s resear
Engineering design problems are most frequently charac-terized by constraints that make them hard to solve and time-consuming. When evolutionary algorithms are used to solve these problems, constraints are often handled with the generic weighted sum method or with techniques specific to the prob-lem at hand. Most commonly, all constraints are evaluated at each generation, and it is also necessary
Extremely large filled-aperture ground-based optical-IR telescopes, or ELTs, ranging from 20 to 100m in diameter, are now being proposed. The all-important choice of the aperture must clearly be driven by the potential science offered. We here highlight science goals from the Leiden Workshop in May 2001 suggesting that for certain critical observations the largest possible aperture - assumed to be
Objective. The popliteal artery is, after the aorta, the most common site for aneurysm formation. Why the popliteal artery is more susceptible than other peripheral muscular arteries is unknown. An important factor may be differences in arterial wall composition as compared with other peripheral muscular arteries, which in turn affect wall properties. These are however unknown. We studied the mech
A simple assay was developed to estimate functional mannose-binding lectin (MBL) levels in serum based on the principle of yeast-induced bystander lysis of chicken erythrocytes (ChE). The assay is sensitive to inhibition by ethylene glycol bis-(beta-aminoethyl ether)-N,N,N',N'-tetraacetic acid (EGTA) (which allows alternative pathway activation), ethylene diamine tetraacetic acid (EDTA), mannose,
Three different kinds of glassy carbon (GC-R, GC-K, GC-G) were equally pretreated, further modified with electrochemically deposited Prussian Blue and used as sensors for hydrogen peroxide at an applied potential of -50 mV (vs. Ag|AgCl). Their performance was evaluated with respect to the following parameters: the coverage and electrochemistry of the electrodeposited Prussian Blue, the sensitivity
Background: Potential fragrance allergens used in daily products should have a concentration limited to levels that are at, or below, acceptable exposure levels based on the quantitative risk assessment for the induction of dermal sensitization. To date, there are insufficient data to discern any quantitative relationship between induction and elicitation concentrations for fragrance ingredients
The study investigates the extent to which the perceived physical environmental quality of housing facilities for people with severe mental illness accounts for perceived social environmental quality. Twenty facilities were assessed by people with psychiatric disabilities (residents), staff, and experts with regard to the physical environmental aspects of visual pleasantness, indirect environmenta
The perfusion-/diffusion-weighted imaging (PWI/DWI) mismatch and the diffusion/fluid attenuated inversion recovery (DWI/FLAIR) mismatch are magnetic resonance imaging (MRI) markers of evolving brain ischemia. We examined whether the DWI/FLAIR mismatch was independently associated with the PWI/DWI mismatch. Furthermore, we determined whether the presence of the DWI/FLAIR mismatch in patients with t
The aim was to design and validate a questionnaire pertaining to eating problems in individuals with normal intelligence, within the autism spectrum. The questionnaire was based on literature search and clinical experience. The validation focused on psychometric properties of reliability and validity using a clinical group of individuals with autism Spectrum disorders (ASD) (n = 57) and a matched,
A double conformationally restricted kinetically labile supramolecular catalytic system, the third generation, was designed and synthesized. We investigated the substrate selectivity of this system by performing competitive pairwise epoxidations of pyridyl-and phenyl-appended olefins. We compared the obtained substrate selectivities to previous less preorganized generations of this system. Five di
The stars that populate the solar neighbourhood were formed in stellar clusters. Through N-body simulations of these clusters, we measure the rate of close encounters between stars. By monitoring the interaction histories of each star, we investigate the singleton fraction in the solar neighbourhood. A singleton is a star which formed as a single star, has never experienced any close encounters wi
This thesis, which is based on four original papers, deals with human dendritic cells (DCs) in immunity and allergy. DCs play a key role in the regulation of immune responses by acting as the sentinels of the immune system, specialized in the uptake of a diverse range of antigens. These cells migrate to local lymph nodes and become highly efficient in inducing T cell proliferation, thus inducing a
OBJECTIVE: To compare the neonatal outcome after a trial of labor (TOL) with that after an elective cesarean section (CS) following one previous cesarean delivery, considering the indication for the first CS. DESIGN: Population-based cohort study. SETTING: Sweden. POPULATION: Women with their first two deliveries 1992-2007 registered in the Swedish Medical Birth Registry. METHODS: The risk of low
