Filtyp
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the deriva
Plant-based meat analogs (PBMAs) are defined as foods formulated from plant proteins that imitate meat structure, flavor and physical appearance. In the past decade, the market for PBMA has increased nearly threefold with global retail sales of $6,6 billion in 2024 compared to $2,2 billion in 2015, as part of a broader shift toward a more plant-based diet. However, knowledge of the microbiological
This thesis contributes to the understanding of sustainability-oriented technological innovation (SOTI) by applying an innovation ecosystem perspective. The aim is to explore how interactions between actors shape SOTI and how these interactions enable or constrain adoption in practice. To address this purpose, a qualitative case study was conducted within the Swedish agri-food innovation ecosystem
ATT PLÖJA MYCKET, LITE ELLER INGET ALLS Vi blir fler och fler människor på vår planet, och år 2050 beräknas vi vara så många som 10 miljarder. Det innebär att vi måste kunna producera mer mat på en lika stor eller till och med mindre yta jämfört med idag. En stor del av den mat vi konsumerar produceras antingen direkt eller indirekt på åkrar runt om i världen. För lantbrukare som är inriktade på vSoil microorganisms are important for climate regulation as well as for plant nutrition. In agricultural soils the microorganisms are affected by management choices, like which type of tillage that is used. Moldboard plowing, the most common tillage practice, increases mineralization which leads to soil organic carbon (SOC) loss, and may thus reduce soil quality. Conservation tillage practices inf
Background Isolated (sub)acute chorea in young patients is a relatively rare movement disorder with a broad differential diagnosis, including drug-induced, post-infectious, auto-immunological and vascular aetiologies. Case presentation We describe an adolescent girl with Down's syndrome presenting with chorea due to oral contraceptive usage. After discontinuation of the oral contraceptive it took
Phosphohydroxylysinuria has been described in two patients with neurological symptoms, but the deficient enzyme or mutated gene has never been identified. In the present work, we tested the hypothesis that this condition is due to mutations in the AGXT2L2 gene, recently shown to encode phosphohydroxylysine phospholyase. DNA analysis from a third patient, without neurological symptoms, but with an
Case: A 34-year-old woman was referred to our hospital with progressive movement disorders and neurodegeneration with brain iron accumulation and enlargement of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder. Background: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation
Resting energy expenditure (REE) was investigated in 8 children with propionic and methylmalonic acidaemias because a lowered REE has been reported in the literature. We observed a marginally elevated REE and think that adequate caloric intake and the use of a synthetic amino acid mixture are responsible for this.
Hemolysins are cytolytic proteins which have been extensively characterized at the molecular level, however, their in vivo functions remain unclear. This study analyzed the association of hemolysin production with the inflammatory response in patients with urinary tract infection (UTI). Infants and children with their first episode of UTI (n = 644) were followed prospectively. The body temperature
Enzymatic transglycosylation of lactose into oligosaccharides was studied using wild-type β-glucosidase (CelB) and active site mutants thereof (M424K, F426Y, M424K/F426Y) and wild-type β-mannosidase (BmnA) of the hyperthermophilic Pyrococcus furiosus. The effects of the mutations on kinetics, enzyme activity, and substrate specificity were determined. The oligosaccharide synthesis was carried out
Aims: In this article we explore the moderators of effectiveness of WISEteens (Web-based brief Intervention for SubstancE using teens), a fully automated web-based brief motivational intervention targeting risky substance use among adolescents. Based on previous studies, we examined the differential effects on drinking of sex, readiness to change, self-efficacy, alcohol risk status, and parental m
Despite many reports of putative stem-cell-based treatments in genetic and degenerative disorders or severe injuries, the number of proven stem cell therapies has remained small. In this Review, we survey advances in stem cell research and describe the cell types that are currently being used in the clinic or are close to clinical trials. Finally, we analyse the scientific rationale, experimental
The present study focuses on NNE-trending dykes (sites LDA to LDJ) that occur near Mashishing in the eastern Kaapvaal craton. The Mashishing dykes were previously considered to be coeval and regarded as the extension of the 1.875–1.835Â Ga Black Hills dyke swarm into the sedimentary rocks of the Pretoria Group. Thin sections exhibit well-preserved igneous textures, with primary minerals (e.g., hor
This paper describes the diagnostic criteria for presbyvestibulopathy (PVP) by the Classification Committee of the Bárány Society. PVP is defined as a chronic vestibular syndrome characterized by unsteadiness, gait disturbance, and/or recurrent falls in the presence of mild bilateral vestibular deficits, with findings on laboratory tests that are between normal values and thresholds established fo
The electronic spectra of three rhombic type 1 blue copper proteins, nitrite reductase, pseudoazurin, and cucumber basic protein, have been studied by ab initio multiconfigurational second-order perturbation theory (the CASPT2 method). The six lowest excitations have been calculated and assigned with an error of less than 1800 cm-1. The singly occupied orbital in the ground-state forms a strongly
Free energy perturbations have been performed on two blue copper proteins, plastocyanin and nitrite reductase. By changing the copper coordination geometry, force constants, and charges, we have estimated the maximum energy with which the proteins may distort the copper coordination sphere. By comparing this energy with the quantum chemical energy cost for the same perturbation on the isolated cop
Objectives A prospective randomised trial to compare two different durations of maintenance immunosuppressive therapy for the prevention of relapse in anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV). Methods P atients with AAV were recruited 18-24 months after diagnosis if they were in stable remission after cyclophosphamide/prednisolone-based induction followed by azathi
