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Background: Genetic variants in SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin. Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.73m2), hyperkalem
Inslaget av nämndemän förekommer både i den svenska och finska rättsordningen. Juridiskt skolade domare och nämndemän utgör i olika utsträckning i dessa länder tillsammans ledamöterna i domstolar. En ständigt aktuell fråga i Sverige är om vi ska avskaffa eller reformera nämndemannasystemet. Att vi i Sverige tillsätter nämndemän genom val i kommunfullmäktige och regionfullmäktige utgör enligt somliThe element of lay judges is present in both the Swedish and Finnish legal systems. Together with professional judges, lay judges assume different roles in the two countries constituting the courts. A constantly relevant question in Sweden is whether the system should be reformed or perhaps even abolished. In Sweden, municipalities and provinces select the lay judges. For some, this poses a concer
Neutralitetsprincipen har sedan länge varit en starkt etablerad och mycket vik-tig princip på idrottens område. Att stå fri från politiskt inflytande och att stå neutrala i politiska frågor grundar sig i viljan att vara en inkluderande och accepterande arena där alla idrottare kan tävla på lika villkor, oavsett politiska eller religiösa bakgrunder. Idrottsrörelsen vill vara en värld dit polariseraThe principle of neutrality is a well-established and important principle within the sports world. The freedom from political influences and the ability to remain neutral in political matter is founded on the wish to be an inclusive and accepting arena, where athletes compete on the same terms, regardless of political or religious background. The sport world’s main objective is to be an impartial
Frågan om utländska direktinvesteringar och främmande staters inflytande i Sveriges känsliga angelägenheter är en som aktualiserats mycket på senare år, inte minst på grund av det alltmer ansträngda omvärldsläget. Den första december 2023 antogs UDI-lagen, som ger möjlighet att granska investeringar i svensk skyddsvärd verksamhet, och eventuellt förbjuda dem, om de anses kunna vara potentiellt ska
Resursfördelning för verksamhetsåret 2015 Planeringsförutsättningar för forskning perioden 2016-2018 LUNDS UNIVERSITET | DNR STYR 2014/106 FASTSTÄLLD AV UNIVERSITETSTYRELSEN 2014-11-07 Innehåll Sammanfattning .................................................................................................................................... 3 1 Inledning ............................................
https://www.medarbetarwebben.lu.se/sites/medarbetarwebben.lu.se/files/resursfordelningen_2015.pdf - 2026-05-14
This paper presents a receiver front end with improved blocker handling implemented in a 65-nm CMOS technology. Since close-in blockers are challenging to reject at RF, the receiver features a baseband (BB) notch filter, which effectively sinks close-in blocker current directly from the output of an LNTA and passive mixer structure. The notch-filter frequency can be tuned to match the blocker offs
Purpose – The study aims to investigate the effects of a remote energy management service to the energy consumption of retail buildings. The study focuses on analysing the changes in energy consumption after the implementation of a facility service concept where building processes are optimized with a remote energy management system. The paper seeks to demonstrate that remotely operated building m
Background Cardiac fibrosis is thought to play a central role in the pathogenesis of atrial fibrillation (AF). Retrospective studies have suggested that circulating fibrosis biomarkers are associated with AF, but prospective studies are limited. Methods We measured circulating levels of 2 fibrosis biomarkers, procollagen type III, N-terminal propeptide (PIIINP) and transforming growth factor β1 am
Aim: Children born preterm are at increased risk of reduced lung function. The aim was to test whether lung function was associated with pulmonary vascular resistance. Methods: Participants were recruited from a population-based cohort born in 2004-2007. Lung function was assessed with spirometry after administration of a beta2-agonist. Forced vital capacity (FVC) and forced expiratory volume in o
Chemistry and kinematic studies can determine the origins of stellar population across the Milky Way. The metallicity distribution function of the bulge indicates that it comprises multiple populations, the more metal-poor end of which is particularly poorly understood. It is currently unknown if metal-poor bulge stars ([Fe/H] <−1 dex) are part of the stellar halo in the inner most region, or a di
The U antigen (MNS5) is one of 49 antigens belonging to the MNS blood group system (ISBT002) carried on glycophorins A (GPA) and B (GPB). U is present on the red blood cells in almost all Europeans and Asians but absent in approximately 1.0% of Black Africans. U negativity coincides with negativity for S (MNS3) and s (MNS4) on GPB, thus be called S-s-U-, and is thought to arise from homozygous del
Goal-directed behavior can benefit from proactive adjustments of cognitive control that occur in anticipation of forthcoming cognitive control demands (CCD). Predictions of forthcoming CCD are thought to depend on learning and memory in two ways: First, through direct experience, associative encoding may link previously experienced CCD to its triggering item, such that subsequent encounters with t
Background: Well characterized human cell lines are needed for preclinical treatment studies of anaplastic thyroid cancer (ATC).Aims/Objectives: The aim was to establish, verify and characterize a panel of ATC cell lines.Material and methods: Cell lines were established from ATC fine-needle aspiration biopsies and characterized genetically and functionally regarding treatment sensitivities.Results
The agricultural sector is thought to be responsible for around 30% of the anthropogenic climate change and it is well established that high meat consumption has a tremendous impact on the environment. Rapeseed is mainly used for production of vegetable oil, but press cake has high protein content with the potential for incorporation into new plant protein-based foods. Protein was recovered from p
Increased risk for non-Hodgkin's lymphoma (NHL) following exposure to certain pesticides has previously been reported. To further elucidate the importance of phenoxyacetic acids and other pesticides in the etiology of NHL a pooled analysis was performed on two case-control studies, one on NHL and another on hairy cell leukemia (HCL), a rare subtype of NHL. The studies were population based with ca
BACKGROUND: The penetrance of type 1 diabetes mellitus (T1DM) in a genetically susceptible population is largely determined by environmental influences amongst which the human enteroviruses are prominent putative factors.AIM/HYPOTHESIS: The aim of this study was to determine the occurrence of enterovirus RNA in serum of children with type 1 diabetes at onset and ICA-positive subjects in a populati
