Sökresultat

The mucopolysaccharidoses (MPS) are lysosomal storage disorders that result from defects in the catabolism of glycosaminoglycans. Impaired muscle, bone, and connective tissue are typical clinical features of MPS due to disruption of the extracellular matrix. Markers of MPS disease pathology are needed to determine disease severity and monitor effects of existing and emerging new treatments on dise

Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options avai

UV absorption from carbon nanoparticles is a very interesting astrophysical topic. The prominent hump centred at 217.5 nm is the most dominant feature in the interstellar extinction curve and also the most controversial and a long-standing problem in astrophysics. At the University of Milano an experimental set-up based on a Pulsed Microplasma Cluster Source has been developed for the investigatio

Studies evaluating the relationship between platelet indices and cardiovascular (CV) outcomes yielded conflicting results. We assessed the incidence of adverse events according to baseline quintiles of platelet indices in the prospective cohort of the Malmö Diet and Cancer Study. A total of 30,314 individuals (age 57 ± 8 years) were followed for a median of 16 years (468,490 person-years). Outcome

There is a large body of evidence that atomic nuclei can undergo octupole distortion and assume the shape of a pear. This phenomenon is important for measurements of electric-dipole moments of atoms, which would indicate CP violation and hence probe physics beyond the Standard Model of particle physics. Isotopes of both radon and radium have been identified as candidates for such measurements. Her

Tau neurofibrillary tangle (NFT) pathology in the medial temporal lobe (MTL) is closely linked to neurodegeneration, and is the early pathological change associated with Alzheimer’s disease (AD). To elucidate patterns of structural change in the MTL specifically associated with tau pathology, we compared high-resolution ex vivo MRI scans of human postmortem MTL specimens with histology-based patho

The development of artificial intelligence (AI) for medicine and health care is rapidly evolving. However, the automation, scale and data dependency of AI-driven decision-making and decision-support calls for a reassessment of principal ethical and legal norms of transparency, in the light of these novel methodologies. The quality of AI-driven health care, we argue, is depending on it. In this cha

Purpose: Previous studies using FLASH radiotherapy (RT) in mice showed a marked increase of the differential effect between normal tissue and tumors. To stimulate clinical transfer, we evaluated whether this effect could also occur in higher mammals. Experimental Design: Pig skin was used to investigate a potential difference in toxicity between irradiation delivered at an ultrahigh dose rate call

COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

Insights into past marine carbon cycling and water mass properties can be obtained by means of geochemical proxies calibrated through controlled laboratory experiments with accurate seawater carbonate system (C-system) manipulations. Here, we explored the use of strontium/calcium ratio (Sr/Ca) of the calcite shells of benthic foraminifera as a potential seawater C-system proxy through a controlled

Introduction: We investigated amyloid-burden quantification in a mixed memory clinic population. Methods: [18F]Florbetaben amyloid-PET (positron emission tomography) scans of 348 patients were visually read and quantified using the Centiloid (CL) method. General linear models were used to assess CL differences across syndromic and etiological diagnosis. Linear mixed models were fitted to assess th

Background: Little is known about the effects of pesticides on children's respiratory and allergic outcomes.We evaluated associations of prenatal and current pesticide exposures with respiratory and allergic outcomes in children from the Infants' Environmental Health Study in Costa Rica.Methods: Among 5-year-old children (n=303), we measured prenatal and current specific gravity-corrected urinary

Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci ha

Anthropogenic activities such as intensification of agriculture, animal husbandry and expansion of cities can negatively impact wildlife through its influence on the availability of high-quality food resources and pathogen transmission. The house sparrow (Passer domesticus), an urban exploiter, is undergoing a population decline. Nutritional constrains and infectious diseases has been highlighted

Background and purpose We investigated the clinical applicability of a novel liquid fiducial marker (LFM) for image-guided pencil beam scanned (PBS) proton therapy (PBSPT) of locally advanced lung cancer (LALC). Materials and methods The relative proton stopping power (RSP) of the LFM was calculated and measured. Dose perturbations of the LFM and three solid markers, in a phantom, were measured. P

Epigenetic modifications triggered by high glucose may predispose to diabetes risk by regulating gene expression activity. A growing body of evidence suggests that histone modification which is an essential component of epigenetic mechanism may play an important role in the development of type 2 diabetes (T2D) and its complications. In this thesis, the overarching aim is to map histone modificatio

Information on late onset liver complications after childhood cancer is scarce. To ensure an appropriate follow-up of childhood cancer survivors and reducing late liver complications, the need for comprehensive and accurate information is presented. We evaluate the risk of liver diseases in a large childhood cancer survivor cohort. We included all 1-year survivors of childhood cancer treated in th

Joint Species Distribution Modelling (JSDM) is becoming an increasingly popular statistical method for analysing data in community ecology. Hierarchical Modelling of Species Communities (HMSC) is a general and flexible framework for fitting JSDMs. HMSC allows the integration of community ecology data with data on environmental covariates, species traits, phylogenetic relationships and the spatio-t