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Background: Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is preferred to hematopoietic stem cell transplantation (SCT) due to the treatment-related risks of th

Most visual systems are more sensitive to luminance than to colour signals. Animals resolve finer spatial detail and temporal changes through achromatic signals than through chromatic ones. Probably, this explains that detection of small, distant, or moving objects is typically mediated through achromatic signals. Macroglossum stellatarum are fast flying nectarivorous hawkmoths that inspect flower

This paper describes the fabrication of efficient ultra-thin silicon transmission detectors for use as pre-cell detectors in single-ion experiments on living cells at the Lund Ion Beam Analysis Facility. More than 40 detectors of different thicknesses down to 5 mu m have been fabricated and packaged. The main design considerations were very low leakage current (below 9 nA) and low full depletion v

The unique ability of cyclodextrin glycosyltransferase to form and utilize the cyclic maltooligosaccharide cyclodextrin (CD) makes this enzyme an attractive catalyst for the synthesis of alkyl glycosides. Here, we characterize the sugar headgroup elongation of alkyl glucosides (acceptor) via two transglycosylation reactions from either a linear (maltohexose) or a cyclic (CD) glycosyl donor. Inclus

Multifunctional buildings, often hosting societal important functions, have become increasingly more common during the last years. The combination of many functions within the same building as well as an increased exposure to antagonistic attacks create new, not previously well analyzed problems for fire safety. A method for selection and evaluation of fire scenarios in multifunctional buildings h

A measurement of the multi-strange Xi(-) and Omega(-) baryons and their antiparticles by the ALICE experiment at the CERN Large Hadron Collider (LHC) is presented for inelastic proton-proton collisions at a centre-of-mass energy of 7 TeV. The transverse momentum (p(T)) distributions were studied at mid-rapidity (vertical bar y vertical bar < 0.5) in the range of 0.6 < p(T) < 8.5 GeV/c Xi(-) for an

The overall aim of this thesis was to describe parents’ expectations, experiences and reactions to a routine ultrasound examination during the second trimester of pregnancy and to develop, test and use a questionnaire. The aim was also to conceptualize the parents’ experiences and ways of handling the situation when the diagnosis was a non-viable fetus. The data for this thesis was collected betw

Amelogenin is an extracellular protein first identified as a matrix component important for formation of dental enamel during tooth development. Lately, amelogenin has also been found to have positive effects on clinical important areas, such as treatment of periodontal defects, wound healing, and bone regeneration. Here we present a simple method for purification of recombinant human amelogenin e

Recent reports suggested frequent occurrence of cancer associated somatic mutations within regulatory elements of the genome. Based on initial exome sequencing of 21 melanomas, we report frequent somatic mutations in skin cancers in a bidirectional promoter of diphthamide biosynthesis 3 (DPH3) and oxidoreductase NAD-binding domain containing 1 (OXNAD1) genes. The UV-signature mutations occurred at

Mn5Ge3(001) thin films grown on Ge(111)-c(2 x 8) reconstructed surfaces were studied by angle-resolved photoemission using synchrotron radiation in the 14-94 eV photon energy range. The results obtained in the Gamma ALM plane and in the Gamma AHK plane are in agreement with simulations starting with band structure calculations based on the density functional theory. This provides a unique validati

Popular Abstract in Swedish Stroke, eller slaganfall, är en sammanfattande benämning på sjukdomar som drabbar blodförsörjningen i hjärnan. Varje år insjuknar cirka 30000 personer i Sverige i stroke, av dessa drabbas cirka 15% av blödningar medan resterande 85% får infarkter, dvs blodpropp i hjärnan. Stroke upptar fler vårddagar i slutenvården än någon annan somatisk sjukdom. Medianåldern för insjuBackground Stroke is a serious vascular disorder that comprises intracerebral hemorrhages, subarachnoid hemorrhages and ischemic stroke (IS). The etiology of stroke, including hereditary components induced by cellular mechanisms, is therefore a research field of vital importance. The aim of this thesis was to assess possible genetic impact on stroke risk. We thus evaluated family history of strok

Specimens of gastric mucosa and liver of 25 free-ranging Eurasian lynx (Lynx lynx), and four red foxes (Vulpes vulpes) shot in Sweden during 1999-2000, were investigated for the presence of Helicobacter species. Histopathology, bacteriologic culture and urease test, Helicobacter genus-specific 16S rDNA PCR analysis, and DNA sequence analysis were applied. Numerous Helicobacter-like organisms were

The H(2) optimization problem with preview and asymptotic behavior constraints is considered in a general two-sided model matching setting. The solution is obtained in terms of two constrained Sylvester equations, associated with asymptotic behavior, and stabilizing solutions of two algebraic Riccati equations. The Riccati equations do not depend on the preview length, yet are affected by asymptot

Objective: To explore the links between neurodevelopmental disorders attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) and personality in a population-based, genetically sensitive study of children. Method: A population-based sample of 1886 twins aged 9 and 12, enriched for childhood mental health problems, was recruited from the Child and Adolescent Twin Study in

Abstract in Danish En paragraf i serviceloven giver pårørende mulighed for at få pasningsorlov, når deres nærtstående familiemedlem er indlagt. Men paragraffen er ikke kendt af så mange.

Cutaneous melanoma occurs in both familial and sporadic forms. We investigated a melanoma-prone family through linkage analysis and high-throughput sequencing and identified a disease-segregating germline mutation in the promoter of the telomerase reverse transcriptase (TERT) gene, which encodes the catalytic subunit of telomerase. The mutation creates a new binding motif for Ets transcription fac

There is limited information regarding new ulceration following the healing of ischaemic foot ulcers in diabetic patients. Our aim is to study new ulcerations in the same foot as the previous ulcer(s) in patients with diabetes and severe peripheral artery disease (PAD).

Genome-wide association studies (GWASs) may help to understand the effects of genetic polymorphisms on breast cancer (BC) progression and survival. However, they give only a focused view, which cannot capture the tremendous complexity of this disease. Therefore, we investigated data from a previously conducted GWAS on BC survival for enriched pathways by different enrichment analysis tools using t

Objectives: To describe dietary glycaemic index (GI) and glycaemic load (GL) values in the population participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) study according to food groups, nutrients and lifestyle characteristics. Methods: Single 24-h dietary recalls (24-HDRs) from 33 566 subjects were used to calculate dietary GI and GL, and an ad hoc database was