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Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes1,2. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson’s disease3,4, su
There are two levels to this thesis, the examination of the particular case and the exposition of the general approach. The case the thesis deals with is Louisiana’s coastal land-loss crisis and what can and should be done about it. I examine the current approach to coastal protection and restoration in the state of Louisiana, drawing on different economic theories of sustainable development and c
OBJECTIVE: To assess pulmonary function and Chronic Obstructive Pulmonary Disease (COPD) development over time in patients with primary Sjögren's Syndrome (pSS) and the association between pulmonary function, radiographic findings, respiratory symptoms and clinical features of pSS, taking cigarette consumption into account.METHODS: Forty patients with pSS (mean age 66 yrs, range 42-81 yrs, 39 wome
Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two variables, “Some College” (yes/no) and “Graduated College” (yes/no). Interactions were evaluated using both
The purpose was to examine if scatter correction software could replace a grid while maintaining image quality and reducing radiation dose for pelvic DR examinations. Grid images was produced with 70 kV and 16mAs. Anthropomorphic- and Contrast Detail RADiography (CDRAD) non-grid images were produced with 60 kV, 80 kV and 90 kV combined with five different mAs and scatter correction software. The a
Stratospheric aerosol has long been seen as a pure mixture of sulfuric acid and water. Recent measurements, however, found a considerable carbonaceous fraction extending at least 8 km into the stratosphere. This fraction affects the aerosol optical depth (AOD) and the radiative properties, and hence the radiative forcing and climate impact of the stratospheric aerosol. Here we present an investiga
Elevated blood pressure (BP) is a worldwide burden, leading to over 10 million deaths yearly. May Measurement Month (MMM) is a global initiative organized by the International Society of Hypertension aimed at raising awareness of hypertension and the need for BP screening. An opportunistic cross-sectional survey of volunteers aged ≥18 was carried out in May 2017. BP measurement, the definition of
Stars ejected from the Galactic Center can be used to place important constraints on the Milky Way potential. We have used Hills stars to constrain models for the Galactic potential, demonstrating that meaningful constraint can be obtained if we have samples of around 50 nearby Hills stars.
Background.We evaluated the 15-year kidney allograft survival in patients with primary glomerulonephritis and determined if the risk of graft loss varied with donor source within each glomerulonephritis group. Methods. Using data from the European Renal Association-European Dialysis and Transplant Association Registry, Kaplan-Meier, competing risk, and Cox regression analyses were performed on adu
Alternative C activation is involved in the pathogenesis of ANCA-associated vasculitis. However, glucocorticoids used as treatment contribute to the morbidity and mortality of vasculitis.We determined whether avacopan (CCX168), an orally administered, selective C5a receptor inhibitor, could replace oral glucocorticoidswithout compromising efficacy. In this randomized, placebo-controlled trial, adu
Circulating mitochondrial DNA (mtDNA) is receiving increasing attention as a danger-associated molecular pattern in conditions such as autoimmunity, cancer, and trauma. We report here that human lymphocytes [B cells, T cells, natural killer (NK) cells], monocytes, and neutrophils derived from healthy blood donors, as well as B cells from chronic lymphocytic leukemia patients, rapidly eject mtDNA a
This chapter focuses on the personal experiences of collaborations based on academic–practitioner interactions, which are not always as straightforward as presented in commonplace transdisciplinary theory. By using autoethnographic methodology, this chapter provides some of the most important insights from past and ongoing work from a major sustainability project that uses the ‘Research Forum’ (RF
Just like a living organism, also the project has an anatomy, a life span and a purpose. A project has its given actors, given timeframe and phases, and a given goal. Towards the project’s completion, all these factors must intertwine perfectly, otherwise the project’s success will be challenged. Uncovering how these intricacies are held in place has been the epistemological foundation of this boo
Understanding the spatial dimension of project-making is important because projects are almost always restricted to a spatial focus – they are being spatialised. There are spatial projects referring to the geographical scale of the project, such as global, local or regional projects. There are spatial projects referring to hierarchies of political entities, such as state, county or municipal proje
We all are accustomed to projects. Projects are everywhere, and everything is basically a project. We have learnt how to deal with projects, for better or worse. Some of us love them, some of us are fed up with them. But projects are here to stay. Projects are far from a new invention, what has changed is the fine-tuning. It has changed to the point that projects of today are virtually unrecognisa
In this analytical chapter we focus on human factors to shed light on what a 21st-century project might look like from within. Adopting a non-essentialist perspective to project-making, we at the same time acknowledge that the notion of human nature is blurred, dynamic, changeable, heterogeneous, and internally riven. The human condition, hence, always dictates what ontological position a project
What does a sustainability project look like in the 21st century? Not the glossy version, but the naked truth? Tired of manicured, over-theorised accounts of the ‘musts’ and ‘shoulds’ of sustainability transitions, we got to the bottom of things; actually, to the very bottom of the project hierarchy: the individual. Our point of departure is that projects are nothing but temporarily interconnected
Globalisation traps, balkanisation, class polarisation, the dominance of transnational companies and the subordination of transnational migrants are all part of the imaging broadcast over the global media, and they merge with experiences of fear and joy in the countdown to the next millennium. The globalisation of fragmentation consists in driving a class wedge through the ethnic groups themselves
