Genome-wide association studies (GWASs) based on common single nucleotide polymorphisms (SNPs) have identified several loci associated with the risk of monoclonal gammopathy of unknown significance (MGUS), a precursor condition for multiple myeloma (MM). We hypothesized that analyzing haplotypes might be more useful than analyzing individual SNPs, as it could identify functional chromosomal units

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential as

The present article investigates key dilemmas in collective legal mobilization initiatives in the field of asylum and migrants’ rights. Focusing on my own experiences from working in the Asylum Commission – a trans-sectional mobilization initiative that ran in Sweden from 2019 to 2022, involving researchers, civil society representatives, and professionals – I analyze two central dilemmas that cha

An overview of the European storage ring free electron laser (FEL) project was presented. The details of initial lasing at 350 nm and 220 nm ranges were also presented. The distinguising features of the project were the use of an optical klystron to reduce power loading on the mirrors, the use of sophisticated mirror chambers and the integration of the FEL on a low emittance synchrotron radiation

The MAX-IV linac will be used both for injection and top up into two storage rings, and as a high brightness injector for a Short Pulse Facility (SPF) and an FEL (in phase 2). 100 pC bunches of electrons are created from a 1.5 cell $-band photocathode gun and subsequently accelerated up to 3 GeV by $-band linac sections. Simulations of the dynamics of the space-charge dominated beam up to 100 MeV

Purpose: To investigate the contributors to self-rated health in people with late-stage Parkinson’s disease (PD) and cognitive impairment. Methods: A secondary analysis of baseline data from the international Care of Late-Stage Parkinsonism (CLaSP) cohort study was conducted. Participants with PD and either dementia or mild cognitive impairment or MMSE < 24/30 in the absence of major depression we

We study opinion dynamics in social networks using a version of the concatenated Friedkin-Johnsen model, where the opinion evolution of the participating agents is allowed to continue over sequences of related issues. These agents have a certain associated stubbornness that anchors them to their initial opinion, which we allow them to update between issues. The central purpose of the present work

Auditory Attention Decoding (AAD) aims to determine the focus of a listener’s attention in environments with multiple overlapping speakers, a challenging situation for hearing impaired patients known as the Cocktail Party Problem. This thesis investigates AAD using Whisper, a transformer-based Automatic Speech Recognition (ASR) system that performs a graded transformation from speech to text while

Spores of Curvularia lunata were immobilized in polyacrylamide granules and in calcium alginate beads (2–3 mm in diam.). Germination of the spores, initiated by the addition of nutrients, resulted in an even distribution of mycelium throughout the beads after 48 h. Such beads were used for the conversion of cortexolone to cortisol by steroid-11β-hydroxylation. In order to improve the steroid trans

This paper describes the preparation of a bifunctional NAD compound (Bis-NAD) and its properties as a complexing/precipitating agent for the tetrameric enzyme lactate dehydrogenase (LDH).

Lightweight and semi-transparent organic solar cells (ST-OSCs) offer bright promise for applications such as building integrated photovoltaics. Diluting donor content in bulk-heterojunction active layers to allow greater visible light transmittance (AVT) effectively enhances device transparency, yet the ineluctable compromise of the donor-phase continuity is challenging for efficient charge transp

Accelerating rates of climate change have intensified research on thermal adaptation. Increasing temperature fluctuations, a prominent feature of climate change, means that the persistence of many species depends on both heat and cold tolerance across the entire life cycle. In endotherms, research has focused on specific life stages, with changes in thermoregulation across life rarely being examin

För närvarande står byggnadsindustrin för en betydande del av de totala utsläppen av växthusgaser i Sverige. Resurseffektiviteten är låg och de råmaterial som används i dagsläget utnyttjas inte på ett effektivt sätt. Det råder ingen tvekan om att konsumtionen av naturresurser är ett problem, något som kan förbättras genom exempelvis en ökad grad av återanvändning i materialflödet och genom att vidAt present, the construction industry accounts for a significant part of the total greenhouse gas emissions in Sweden. Resource efficiency is low and the raw materials currently used are not utilized in an efficient manner. There is no doubt that the consumption of natural resources is a problem, something that can be improved by, for example, increasing the degree of reuse in the material flow an

Lactate dehydrogenase has been purified by precipitation with a bis-ligand. The precipitating agent in this case was Bis-NAD. This approach of affinity precipitation is also applicable to other enzymes.

During the last few years Europe has made enormous progress towards free electron laser (FEL)-based research infrastructures. The FLASH facility [1] at DESY in Hamburg, Germany, has been in user operation since the summer of 2005; FERMI@Elettra [2] in Trieste, Italy, is under construction; the European XFEL [3] in Hamburg will start construction in summer 2008; and several other FEL projects are b

Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the ‘Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls’ (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic varia

IMPORTANCE Twin studies have found that posttraumatic stress disorder (PTSD) is influenced by both genetic and environmental factors within a generation. No study has used an adoption design, which can address questions about the degree and sources of cross-generational transmission of adverse stress responses (ASRs) and PTSD. OBJECTIVES To examine whether ASRs or PTSD are transmitted from parents

Large financial institutions are vulnerable to numerous financial risks, necessitating robust regulatory frameworks to prevent crises such as those experienced in 2008. The Basel framework, devised by the Basel Committee on Banking Supervision, incorporates critical measures such as the credit valuation adjustment (CVA) to mitigate these risks. CVA fluctuates significantly based on market factors

Purpose: Iron deficiency anemia is common in people with inflammatory bowel disease (IBD), causing deterioration in quality of life, which can be reversed by treatment that increases iron stores and hemoglobin levels. The present post hoc analyses estimate health state utility values for patients with IBD after treatment with ferric derisomaltose or ferric carboxymaltose and evaluate the health do