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Deficiency in C1 inhibitor (C1INH, SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by loss of C1INH in the general population, we studied genetically-defined C1INH deficiency across 635,823 participants. Functionally deleterious germline coding variation in SERPING1 was rare (~1:10,000), indicating strong gen
Thyroid hormone (TH) signaling plays a major role in the development, energy homeostasis, and metabolism of most tissues. Recent studies have identified THs as drivers of prostate cancer (PCa) development and progression. We reported that the T3-scavenger protein µ-crystallin (CRYM) regulates the development and progression of PCa and that this involved crosstalk with androgen receptor (AR) signal
Background: Aggregated alpha-Synuclein (αSyn) is a hallmark pathology in Parkinson’s disease but also one of the most common co-pathologies in Alzheimer’s disease (AD). Preclinical studies suggest that αSyn can exacerbate tau aggregation, implying that αSyn co-pathology may specifically contribute to the Aβ-induced aggregation of tau that drives neurodegeneration and cognitive decline in AD. To in
AIMS: Although age-related immune deterioration has been implicated as a mechanistic contributor to cardiovascular disease (CVD), evidence for an impairment of adaptive immune function in individuals with clinically verified presence of atherosclerosis is lacking.METHODS AND RESULTS: To test the association between atherosclerosis and immune function, we evaluated SARS-CoV-2 vaccine responsiveness
This article discuss the consequences of the ambiguous view of children in the ethical guidelines – the ambitions to “give voice” while also “protect” – with a point of departure taken in the Swedish context, and in an actual research process of a project on children and care. It shows how the regulation of informed consent through the parent compromises the ideals of child-centred research; first
here have been few longitudinal studies on the effect of within-country mobility on patterns of mortality in deceased foreign-born individuals. The results have varied; some studies have found that individuals who move around within the same country have better health status than those who do not change their place of residence. Other studies have shown that changing one’s place of residence leads
Human immunodeficiency virus type-2 (HIV-2) infected individuals develop immunodeficiency with a considerable delay and transmit the virus at a lower rate as compared to HIV-1 infected. Conceivably, comparative studies on immune responsiveness of the HIV-1 and HIV-2 infected hosts may help to explain differences in pathogenesis and transmission between the two types of infection. Previous studies
Aquaporin membrane protein channels mediate cellular water flow. Human aquaporin 5 (AQP5) is highly expressed in the respiratory system and secretory glands where it facilitates the osmotically-driven generation of pulmonary secretions, saliva, sweat and tears. Dysfunctional trafficking of AQP5 has been implicated in several human disease states, including Sjögren's syndrome, bronchitis and cystic
Background Recanalization of arterial duct (AD) is rarely needed. Objective The aim of this study is to report our experience regarding the feasibility and effectiveness of arterial duct recanalization in three infants and review the relevant literature. Methods and results We report on three patients with decreased pulmonary blood flow after initial palliation. The first patient had pulmonary atr
There is a propensity in many languages for elements that represent backgrounded and/or given information to show up in the middle field, a tendency that I term SHIFT. In this paper I argue that Object Shift and the raising of certain adverbials to the middle field in Swedish is due to this general propensity. SHIFT applies across the board, but language-specific principles, such as Constituent Or
Despite improved survival for the patients with diffuse large B-cell lymphoma (DLBCL), the prognosis after relapse is poor. The aim was to identify molecular events that contribute to relapse and treatment resistance in DLBCL.
This thesis investigates how the civil war in Syria and flight to Sweden has affected male Syrian refugees’ national identity. I conducted individual interviews with 10 informants, a focus group with 4 informants and participant observation at a café. In this thesis, national identity is defined as a part of an individual’s personal identity and consists of a person’s sense of belonging to a speci
Thesis Purpose: The purpose of this study is to extend the research on Instagram content. We will look at how different types of firm-generated content created by Swedish beauty retailers on Instagram is evaluated by young female Swedsih consumers in the hopes of finding which content that is perceived to be visually appealing and met with an interest. Theoretical Perspective: This study builds
