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Background: To investigate the clinical and radiological presentation of anew ELOVL4mutation in a Swedish family.Methods:We compiled information on a Swedish family with 6 affectedmembers. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically bywhole exome or whole genome sequencing.Results: All examined affected family members

This dissertation explores and compares the rationalities through which Danish state officials sought to govern the colonized Afro-Caribbean population in the colony of the Danish West Indies and the state’s Danish subjects living in the metropole of Denmark in the period 1770-1900. Theoretically, it relies upon Michel Foucault’s conception of ’governmentality’ and the way this approach to governi

Over the past 30 years, several sustainability-profiled districts have been developed in Sweden with high ambitions for the energy systems, such as Hammarby Sjöstad in Stockholm and Western Harbor in Malmö. Research into energy systems in urban districts is interdisciplinary and therefore spread over different areas, which means that an overview of the current state of knowledge and lessons learne

Sports-related concussions may cause white matter injuries and persistent post-concussive symptoms (PPCS). We hypothesized that athletes with PPCS would have neurocognitive impairments and white matter abnormalities that could be revealed by advanced neuroimaging using ultra-high field strength diffusion tensor (DTI) and diffusion kurtosis (DKI) imaging metrics and cerebrospinal fluid (CSF) biomarSports-related concussions may cause white matter injuries and persistent post-concussive symptoms (PPCS). We hypothesized that athletes with PPCS would have neurocognitive impairments and white matter abnormalities that could be revealed by advanced neuroimaging using ultra-high field strength diffusion tensor (DTI) and diffusion kurtosis (DKI) imaging metrics and cerebrospinal fluid (CSF) biomar

Extraction of vitamin D, including its hydroxylated and esterified metabolites, from soft tissues such as the liver is challenging due to the lipophilic character of matrix and analytes that are expected in very low concentration levels. In this study, we aimed at the optimization of two-step extraction using solid–liquid extraction as the first step, followed by solid-phase extraction. Various so

Background: Growing evidence indicates that young migrants are particularly vulnerable to sexual violence, however most research has focused on instances of sexual violence occurring in conflict zones and during transit. Much less attention has been given to the vulnerabilities to and experiences of sexual violence among young migrants in Europe.Objectives: To understand the scientific evidence re

Obstructive sleep apnea (OSA) is characterized by repeated episodes of upper airway obstruction during sleep, and it is closely linked to several cardiovascular issues due to intermittent hypoxia, nocturnal hypoxemia, and disrupted sleep patterns. Pulmonary hypertension (PH), identified by elevated pulmonary arterial pressure, shares a complex interplay with OSA, contributing to cardiovascular com

Life’s Essential 8 (LE8) is a score that includes modifiable risk factors for cardiovascular disease. Four health behaviors (diet, physical activity, nicotine exposure and sleep health) and four health factors (non-HDL cholesterol, blood glucose, blood pressure and body mass index) are included. These modifiable risk factors promote inflammation, and inflammation is one of the biological mechanism

Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and ben

Aims: Since its outbreak in 2020, the COVID-19 pandemic has directly caused the premature death of millions. However, indirect consequences, such as social restrictions, have affected a far greater number. We explored the association between the spread of COVID-19 and end-of-life circumstances in the infected and non-infected population in Sweden. Methods: In this descriptive, population-based, ob

Purpose: To report on the ophthalmic findings in children with tuberous sclerosis complex (TSC) in southern Sweden, and to investigate the frequency of refractive errors, strabismus and cerebral visual impairment associated with this condition. Methods: This was a retrospective cohort study including all paediatric patients with TSC in southern Sweden born between 1983 and 2020. Medical records we

The Loess Plateau is one of the most severely affected regions in China by soil erosion, where vegetation restoration is the principal strategy for soil and water conservation. Runoff and sediment reduction benefits (RRB and SRB) are key indicators used to evaluate the effectiveness of vegetation measures. While numerous observational and experimental studies have explored the effects of different

Oxygen-enriched air combustion holds promise as an effective method for harnessing blast furnace gas (BFG) in the steel industry. In this study, the laminar burning velocities of blast furnace gas were measured using the heat flux method under elevated oxygen mole fractions (0.3–1.0) and temperatures (303–353 K). Subsequently, the measured data were used to evaluate the GRI-Mech 3.0, Li, FFCM-1, a

Background Limited data exist on long-term survival of patients requiring admission to intensive care units (ICUs). The aim of this study was to investigate long-term survival of ICU patients in Iceland and assess changes over a 15-year period. Methods Data were collected on age, gender, admission cause, length of stay, comorbidities, mechanical ventilation and survival of patients 18 years and ol

INTRODUCTION: Acute kidney injury (AKI) is a common problem in hospitalized patients, requiring extensive treatment and carries a high mortality rate. This study was designed to assess the epidemiology of AKI, and risk factors and outcome of patients with severe AKI in a tertiary care university hospital in Iceland.MATERIAL AND METHODS: All adult patients with measured serum creatinine (SCr) in La

Purpose: To translate, validate, and evaluate the psychometric properties of the German version of Keratoconus Outcomes Research Questionnaire (KORQ). Methods: This prospective study included 3 phases. In phase 1, the KORQ was translated in a standardized way; in phase 2, Rasch validation was performed; in phase 3, the validated questionnaire was evaluated in a separate patient cohort. All patient

Background. Pain is common in Parkinson's disease (PD) and impairs quality of life. The King's PD pain questionnaire (KPPQ) is a standardized, reliable, and valid self-administered questionnaire for screening of pain in PD. We developed a linguistically validated German version of the KPPQ and applied it to a cohort with fluctuating PD. Methods. The interculturally adapted German translation was p

Vi lever idag i ett digitalt samhälle. Du använder förmodligen själv dagligen olika program och även om all mjukvara i slutändan består av ettor och nollor finns det allt som oftast en person bakom varje program som tagit fram den, en utvecklare. Programmerare tar ofta hjälp från så kallade mjukvaruplattformar. Dessa riktar sig inte direkt mot vanliga användare, utan mot just utvecklare av mjukvaThis research report was carried out in collaboration with Qlik AB and aimed to identify what aspects are needed from a software platform in order for developers to want to use them. It also aimed to identify how well the software platform Qlik Core had implemented these aspects. The research used online questionnaires, interviews and data analysis using Qlik Sense. The research compared how diffe

Insects have been recommended by the FAO as a sustainable food alternative to meat. Despite their nutritional quality and sustainability, most Western countries still see insects as belonging far away from the dinner table. Although still a niche market, Denmark has been at the forefront of innovation and adoption of edible insects. I used integral theory to map out the structural, cultural and pe

Påverkar antalet patogener variationen hos immungener? Hur många olika patogener (sjukdomsframkallande organismer) ens immunsystem kan bekämpa beror delvis på hur hög s.k. MHC-diversitet man har (MHC = Major Histocompatibility Complex). Populationer med hög patogenbelastning förväntas ha en högre MHC-diversitet än populationer med lägre patogenbelastning. Klimat-förändringarna förväntas leda tilThe major histocompatibility complex (MHC) is important for adaptive immunity where the MHC molecules bind and present peptides from pathogens to T cells. The peptide binding repertoire of an individual’s MHC molecules determines what pathogens can be recognised by the immune system, and the MHC peptide binding repertoire is therefore under strong selection from pathogens. Parasite and pathogen di