Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations fr

Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading to increased IOP, which can manifest as medication resistance as disease progresses. To identify physiological modulators of IOP, we performed genome- and exome-wide association an

Languages differ in how grammatically salient gender is. We explored if grammatically gender-neutral pronouns in Finnish and Turkish, two grammatically genderless languages, are gender neutral or male biased, thereby activating male, rather than female, exemplars. We also tested whether differences in national level gender equality influence the male bias. Results indicated a male bias in both lan

Uncharacterized side activities of enzymes can have significant effects on reaction products and yields. Hence, their identification and characterization are crucial for the development of successful reaction systems. Here, we report the presence of feruloyl esterase activity in CtXyn5A from Acetivibrio thermocellus, besides its well-known arabinoxylanase activity, for the first time. Activity ana

The synthesis of high-value fuels and plastics starting from small hydrocarbon molecules plays a central role in the current transition towards renewable energy. However, the detailed mechanisms driving the growth of hydrocarbon chains remain to a large extent unknown. Here we investigated the formation of hydrocarbon chains resulting from acetylene polymerization on a Ni(111) model catalyst surfa

Purpose: To evaluate the reliability, internal consistency, and construct validity of the Swedish versions of PROMIS-29 and Functional Assessment of Chronic Illness Therapy-Dyspnea (FACIT-Dyspnea) instruments in patients with systemic sclerosis (SSc). Methods: In a cross-sectional study, consecutive SSc patients completed a paper-based survey. Internal consistency was assessed using Cronbach’s alp

Duschmunstycke som styr vatten och tvål ger en enklare dusch. Det är en jobbig sanning men faktumet är att vi alla kommer att bli äldre. Detta är inte bara på individnivå utan även samhället i stort. Med ökad ålder så kommer även fler åkommor och begränsningar. Vardagliga uppgifter blir större utmaningar och så småningom kommer kanske så vardagliga saker som att duscha bli ett problem för dig. DäEven though healthcare in Sweden is under pressure, assistant nurses are getting more tasks while still being asked to perform the current ones in a non-stressful manner. At the same time, the amount of people in need of assistance is increasing. A person asking for assistance with a basic task such as a shower is daunting. The purpose of this master thesis is to, through a design process, investi

The aim of this study was to investigate school nurses’ perspectives on students’ health during the COVID-19 pandemic in Sweden in 2021. A cross-sectional survey design was used with school nurses (n = 225) working in schools in Sweden from elementary to upper secondary levels. The Clausson School Nurse Perception Questionnaire was used with two additional questions about the COVID-19 pandemic. Th

COVID-19 is a serious threat to human health and development. The acute burden of the pandemic includes more than 18.2 million deaths worldwide, and is unprecedented in modern times. This represents only a fraction of the total burden, as it excludes infection sequelae. An effective global strategic paradigm has been missing throughout the pandemic. The ‘flattening the curve’ approach neglected th

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arte