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Background-The correlation of null alleles with human phenotypes can provide insight into gene function in humans. In individuals of African ancestry, we set out to identify null and damaging missense variants, and test these variants for association with a range of cardiovascular phenotypes. Methods and Results-We performed whole-exome sequencing in 3223 black individuals from the Jackson Heart S
Huntington's disease (HD) is a fatal, autosomal dominantly inherited neurodegenerative disorder, characterised not only by progressive cognitive, motor and psychiatric impairments, but also of peripheral pathology. In both human HD and in mouse models of HD there is evidence of increased energy expenditure and weight loss, alongside altered body composition. Unlike white adipose tissue (WAT), brow
European populations of the white-tailed eagle Haliaeetus albicilla suffered a drastic decline during the 20th century. In many countries, only a few dozen breeding pairs survived or the species disappeared completely. By today, the populations have recovered, naturally or through restocking (e.g. in Scotland or the Czech Republic). In the Carpathian Basin, which is now a stronghold in southern Eu
The Finnish population of White-tailed Eagle (Haliaeetus albicilla) has gone through two major demographic bottlenecks during the last two centuries. Strong conservation measures have allowed the population to recover, but despite the rapid population growth during recent years the species is still classified as endangered. We studied the genetic population structure at both individual and populat
Context Advanced, life-limiting illnesses are likely to have a predictable functional decline through a terminal phase to death, but some patients may also die suddenly. To date, empirical evidence characterizing “sudden death” in hospice/palliative care is lacking. Objectives The aim of this study was to determine prevalence and clinicodemographic predictors of sudden death in hospice/palliative
Objective. To evaluate the consultation rates of selected comorbidities in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV) compared with the general population in southern Sweden. Methods. We used data from a population-based cohort of patients with AAV diagnosed between 1998 and 2010 in Southern Sweden (701,000 inhabitants). For each patient we identified 4 reference
The objective of this study was to determine the prevalence and some predictors for vaccine and non-vaccine types of HPV infections among bivalent HPV vaccinated and non-vaccinated young women in Uganda. This was a comparative cross sectional study 5.5 years after a bivalent HPV 16/18 vaccination (Cervarix®, GlaxoSmithKline, Belgium) pilot project in western Uganda. Cervical swabs were collected b
The emulsifying ability of OSA-modified and native starch in the granular form, in the dissolved state and a combination of both was compared. This study aims to understand mixed systems of particles and dissolved starch with respect to what species dominates at droplet interfaces and how stability is affected by addition of one of the species to already formed emulsions. It was possible to create
Energies, transition rates, line strengths and lifetimes have been computed for all levels of the 4p 6 and 4p 54d configurations of W38+ by using the multi-configuration Dirac-Hartree-Fock (MCDHF) method as well as relativistic many-body perturbation theory. We investigate systematically correlation, relativistic and quantum electro-dynamical (QED) effects of different properties, including excita
We present a measured value for the degree of pseudo-degeneracy between two fine-structure levels in Fe9+ from line intensity ratios involving a transition induced by an external magnetic field. The extracted fine-structure energy difference between 3p4 3d 4D7/2 the and 4D7/2 levels, where the latter is the upper state for the magnetic-field induced line, is needed in our recently proposed method
Ljus är verkligen fantastiskt. Det kan ge oss känslomässiga upplevelser, som när det faller genom en trädkrona i en skog eller vid en blodröd fullmåne, men det gör det också möjligt för oss att uppfatta och förstå vår omgivning. Majoriteten av den information vi kan tillgodogöra oss om Universum, får vi genom det ljus som atomer och joner i olika kosmiska objekt sänder ut. Varje foton - den minstaMotivated by spectroscopic analysis of astrophysical and laboratory plasma, this thesis concerns the fundamental structure and spectral properties of atoms and their ions. The multiconfiguration Dirac-Hartree-Fock (MCDHF) method is used to predict the emission or absorption of radiation, by atomic systems in general, and of heavy and highly charged ions in particular.The first set of publications,
Adsorption of cereal storage protein and nonstarch polysaccharides onto methylated silica surfaces, as measured by ellipsometry, was used to study possible interactions between those components. All fractions, rye secalin, wheat gliadin, rye arabinoxylan, and wheat arabinogalactan peptide, were surface- oxylan and wheat arabinogalactan peptide on top of gliadin and secalin, respectively, indicated
During the Proterozoic, several mafic dykes with variable trends and mineralogies intruded the Archaean basement of Southeast Greenland. Some of the younger ENE-trending dykes are interpreted to represent a prolongation of the Mesoproterozoic Gardar Province, and have been termed Timmiarmiit dykes. Extrapolations of their trends across the inland ice sheet coincide with the northernmost so-called
Abstract: This paper offers a longitudinal analysis of the Institute of Management Consultants (IMC). Drawing on archive sources, we consider the manner in which the IMC sought to institutionalize a form of expertise specific to management consultants. Rejecting attempts to locate the boundaries of such expertise within idealized, archetypal frameworks, we analyse the IMC’s attempts to secure occu
The volcanic Hartley Formation (part of the Olifantshoek Supergroup, which is dominated by red bed successions) in South Africa recorded depositional and tectonic conditions along the western Kaapvaal Craton during the late Palaeoproterozoic. It formed in association with red bed deposition elsewhere in the cratonic hinterland and along the craton’s northern margin. However, the exact correlation
The Bakhuis Granulite Belt (BGB) is a metamorphic terrain within the Guiana Shield that experienced ultrahigh-temperature (UHT) metamorphism at 2.07–2.05Ga. In the southwest of the BGB, the Kabalebo charnockites were emplaced at ca. 1.99Ga and thus postdate UHT metamorphism by at least 60Myr. Two generations of gabbroic intrusions have been recognized within the BGB, which could act as a heat sour
An electron injector for multi-stage laser wakefield experiments is presented. It consists of a variable length gas cell of small longitudinal dimension (⩽10mm). The gas filling process in this cell was characterized both experimentally and with fluid simulation. Electron acceleration experiments were performed at two different laser facilities. Results show low divergence and low pointing fluctua
