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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
Introduction: Most studies determining speakers’ perceived gender as binarily female or male are reliant on F0 perception, although other vocal parameters may also contribute to the perception of gender. The current study focused on the impact of breathiness on the perception of speakers’ gender as a biological variable (feminine or masculine). Methods: n = 31 normal hearing, native English speake
Phytoplankton have short generation times, flexible reproduction strategies, large population sizes and high standing genetic diversity, traits that should facilitate rapid evolution under directional selection. We quantified local adaptation of copper tolerance in a population of the diatom Skeletonema marinoi from a mining-exposed inlet in the Baltic Sea and in a non-exposed population 100 km aw
Background: Question-based computational language assessments (QCLA) of mental health, based on self-reported and freely generated word responses and analyzed with artificial intelligence, is a potential complement to rating scales for identifying mental health issues. This study aimed to examine to what extent this method captures items related to the primary and secondary symptoms associated wit
Cadmium (Cd) contamination and soil salinity are the main environmental issues reducing crop productivity. This study aimed to examine the combined effects of salinity (NaCl) and Cd on the physiological and biochemical attributes of quinoa (Chenopodium quinoa Willd.). For this purpose, 30-day-old plants of quinoa genotype “Puno” were transplanted in Hoagland's nutrient solution containing diverse
Background and purpose — Hip dislocation in cerebral palsy (CP) is caused by altered muscle forces on the joint during typical hip positioning in adduction–flexion–inward rotation. Preventive surgery includes adductor–psoas lengthening (APL) or varus derotation osteotomy (VDRO) of the proximal femur. We assessed the changes in the hip abduction range after these operations. Patients and methods —
Objectives: To develop EULAR recommendations for screening and prophylaxis of chronic and opportunistic infections in patients with autoimmune inflammatory rheumatic diseases (AIIRD). Methods: An international Task Force (TF) (22 members/15 countries) formulated recommendations, supported by systematic literature review findings. Level of evidence and grade of recommendation were assigned for each
BackgroundRectal washout (RW) is performed to eliminate intraluminal cancer cells and thereby reducing the risk of local recurrence (LR). The overall aim of this thesis was to investigate the importance of RW in rectal cancer surgery.MethodPaper I: Survey of the current practice of RW among Swedish colorectal units.Paper II: The association between RW and 30-day postoperative complications after a
Warmer or cooler spring in northern high latitudes will, for the most part, directly impact gross primary productivity (GPP) of ecosystems, but also carry consequences for the upcoming seasonal GPP. Spatiotemporal patterns of these legacy effects are still largely unknown but important for improving our understanding of how plant phenology is associated with vegetation dynamics. In this study, imp
Bifidobacterium longum endo-α-N-acetylgalactosaminidase (GH101), EngBF, is highly specific toward the mucin Core 1 glycan, Galβ1-3GalNAc. Apart from the side chains involved in the retaining mechanism of EngBF, Asp-682 is important for the activity. In the crystal structures of both EngBF and EngSP (from Streptococcus pneumoniae), we identified a conserved water molecule in proximity to Asp-682 an
A search is presented for the production of a single top quark via left-handed flavour-changing neutral-current (FCNC) interactions of a top quark, a gluon and an up or charm quark. Two production processes are considered: u+ g→ t and c+ g→ t. The analysis is based on proton–proton collision data taken at a centre-of-mass energy of 13 TeV with the ATLAS detector at the LHC. The data set correspond
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. 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
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
Background: Concizumab is an anti-tissue factor pathway inhibitor monoclonal antibody in development as a once-daily, subcutaneous prophylaxis for patients with haemophilia A or haemophilia B with or without inhibitors. We aimed to assess the efficacy and safety of concizumab in patients with haemophilia A or B without inhibitors. Here we report the results from the confirmatory analysis cutoff. M
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
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
The increasing demand for energy-efficient and sustainable construction necessitates the need for building envelope designs that effectively balance moisture safety with sustainability. Improper moisture management in building envelopes can lead to severe consequences, including construction damage, decreased energy performance, and health risks associated with microbial growth. For instance, wate
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
