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Utvecklingen inom gentekniken har gjort det möjligt att inom sjukvårdens ram undersöka många gener samtidigt genom helgenom-/helexomanalyser. Detta har hittills främst utnyttjats för diagnostik av personer, framför allt barn, med misstänkt ärftliga syndrom.Under de senaste tre åren har tekniken utnyttjats för att bygga upp plattformar att användas för kartläggning av recessiva sjukdomsanlag hos frDue to recent advances in molecular genetic testing, massive parallel sequencing has become possible at an affordable cost for health care. Thus, it is now possible to test healthy young persons for carriership of mutations in many genes for severe recessive genetic conditions – extended genetic carrier testing. The introduction of this test in Swedish health care must be accompanied by ethical co

Dynamic isotropy is a condition where eigenfrequencies of a robot are equal, which could be equivalent to the maximization of the lowest eigenfrequency. Accordingly, dynamic isotropy can be considered as an effective criterion to optimize dynamic performance of a robot. In this paper, we firstly present the mathematical conditions in order to obtain dynamic isotropy in hexapods. These conditions a

BACKGROUND: A well-functioning immune defence is crucial for fitness, but our knowledge about the immune system and its complex interactions is still limited. Major histocompatibility complex (MHC) molecules are involved in T-cell mediated adaptive immune responses, but MHC is also highly upregulated during the initial innate immune response. The aim of our study was therefore to determine to what

Migration is energetically demanding and physiologically challenging. Migrating birds, for example, need to boost their antioxidant defenses to defeat the pro-oxidants produced during high energetic activity. The enhanced antioxidant defense possibly withdraws limited resources (e.g., energy or micronutrients) from other physiological functions, such as immune defense. Such a trade-off might not o

Accountability to stakeholders has always been pivotal in supporting nonprofit organizations in legitimizing their existence within local communities and building public trust. The development of Web-based accountability tools has offered growing possibilities to communicate and engage in dialogue with stakeholders. However, nonprofit organizations are not yet fully exploiting the potential of the

The development of gluten-free pasta with functional characteristics is an important strategic area for the food industry. The objective of this study was to evaluate the influence of the polyphenols present in blue maize flour (BMF) on the antioxidant properties and starch digestibility of composite gluten-free pasta. Composite pasta was prepared with 25, 50, or 75% BMF in a laboratory-scale proc

Study Objectives: Obesity is often associated with impaired sleep, whereas the impact of body mass index (BMI) at younger age and previous weight gain on sleep problems remains unknown. Methods: The present study utilized data from the Swedish EpiHealth cohort study. A total of 15845 participants (45–75 years) filled out an internet-based questionnaire. BMI was calculated from both measured data a

Background & aims: Video capsule endoscopy (VCE) is the first-line diagnostic procedure for investigating obscure gastrointestinal bleeding (OGIB). Different re-bleeding rates following index VCE have been reported among Western and Eastern studies. Methods: We conducted a comprehensive literature search to identify studies examining re-bleeding rates after VCE for OGIB. Meta-analysis assessed

Lignin depolymerisation produces a large variety of low molecular weight phenolic compounds that can be upgraded to value-added chemicals. Detailed analysis of these complex depolymerisation mixtures is, however, hampered by the lack of resolving power of traditional analysis techniques. In this study, a novel online comprehensive two-dimensional reversed-phase liquid chromatography (RPLC) × super

Import of the polyamine spermine from the extracellular environment depends on the presence of cell surface heparan sulfate proteoglycans, such as glypican-1. This proteoglycan is internalized by endocytosis, releases its heparan sulfate chains in endosomes by a nitric oxide-, copper- and amyloid precursor protein-dependent mechanism, then penetrates the membrane and is transported to the nucleus

Glioblastoma multiforme (GBM) is the most common malignant primary brain tumor, and available experimental and routine therapies result in limited survival benefits. A vulnerability of GBM cells to catastrophic vacuolization and cell death, a process termed methuosis, induced by Vacquinol-1 (VQ-1) has been described earlier. In the present study, we investigate the efficacy of VQ-1 treatment in tw

We study the adjoint of the double layer potential associated with the Laplacian (the adjoint of the Neumann-Poincaré operator), as a map on the boundary surface Γ of a domain in R3 with conical points. The spectrum of this operator directly reflects the well-posedness of related transmission problems across Γ. In particular, if the domain is understood as an inclusion with complex permittivity ε,

Scalidophoran worms diversified in the Cambrian Fortunian, as indicated by recent reports from this stage, with two described species and two more unnamed forms exclusively from Orsten-type Lagerstätten yielding three-dimensionally phosphatized fossils. Here, we report new material of scalidophoran worms in Orsten-type preservation from the Cambrian Fortunian Xinli section in northern Sichuan Prov

Lemierres syndrom kännetecknas klassiskt av tonsillit, trombos i vena jugularis interna samt septiska lungembolier. Ofta har patienten också sepsis. Sjukdomen drabbar framför allt yngre personer i åldern 15–25 år.Effektiv antibiotikabehandling kopplad till kirurgisk lokal behandling (source control) över tid är fundamental i handläggningen.Sen diagnos och behandling ökar risken för komplicerat vårThe purpose of this case report and discussion is to heighten the awareness of Lemierres syndrome (postanginal sepsis). Affected patients present in various fields of medicine and an increased incidence of “the forgotten disease” may be expected. Fusobacterium necrophorum is the most common pathogen. The clinical course includes a primary head or neck infection with thrombosis of the internal jugu

The incidence of fragility fractures is expected to increase in the near future due to an aging population. Therefore, improved tools for fracture prediction are required to treat and prevent these injuries efficiently. For such tools to succeed, a better understanding of the deformation mechanisms in bone over different length scales is needed. In this study, an experimental setup including mecha

The excited state dynamics of solvated [Fe(bpy)(CN)4]2-, where bpy = 2,2′-bipyridine, show significant sensitivity to the solvent Lewis acidity. Using a combination of optical absorption and X-ray emission transient spectroscopies, we have previously shown that the metal to ligand charge transfer (MLCT) excited state of [Fe(bpy)(CN)4]2- has a 19 picosecond lifetime and no discernable contribution

The mechanism of the reaction of ketene with methyl radical has been studied by ab initio CCSD(T)-F12/cc-pVQZ-f12//B2PLYPD3/6-311G** calculations of the potential energy surface. Temperature- and pressure-dependent reaction rate constants have been computed using the Rice-Ramsperger-Kassel-Marcus (RRKM)-Master Equation and transition state theory methods. Three main channels have been shown to dom

IS strategic alignment remains a research phenomenon of key interest, specifically regarding the dimensions of social IS alignment (i.e., shared IS understanding among key organizational members) and intellectual IS alignment (i.e., IS/business strategy congruence). The examination of IS alignment has been predominantly limited to the examination of top ranks within the organization; however, we c

Phenomenological constitutive models of inelastic responses based on the methods of classical plasticity provide several advantages, especially in terms of computational efficiency. For this reason, they are attractive for the analysis of complex boundary value problems comprising large computational domains. However, for the analysis of problems dominated by single crystal behavior (e.g., inclusi

Ice nucleation active bacteria have attracted particular attention due to their unique ability to produce specific ice nucleation proteins (INpros), which are the most efficient ice nuclei known as they induce nucleation at temperatures close to 0°C. Our model bacterium Pseudomonas syringae strain R10.79 produced INpros containing 67 tandem repeats, forming the proposed ice-binding surface. To und