Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. Methods: We report on disease course, genetic testing, and management

This thesis work concerns the further developments of dual-broadband rotational coherent anti-Stokes Raman spectroscopy (RCARS) through experimental and theoretical investigations. Rotational CARS is an established technique for gas-phase thermometry and concentration measurement with major applications in combustion diagnostics. The technique has previously mainly been applied on species with lin

This dissertation deals with finite-size effects in a few different quantum many-body phenomena in ultracold atomic systems. The finite-sized systems were simulated numerically using both mean-field methods and methods beyond mean-field, e.g. quadratic configuration interaction and exact diagonalization. The thesis is based on five scientific papers:Paper I is about the finite-size effects in the

Iron can be a growth‐limiting nutrient for phytoplankton, modifying rates of net primary production, nitrogen fixation, and carbon export ‐ highlighting the importance of new iron inputs from the atmosphere. The bioavailable iron fraction depends on the emission source and the dissolution during transport. The impacts of anthropogenic combustion and land use change on emissions from industrial, do

Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now all

Försäkringskassan är den myndighet som administrerar huvuddelen den svenska socialförsäkringen. Medborgarnas förtroende för myndigheten har i olika mätningar visat sig vara lågt. Syftet med den här studien är att fördjupa förståelsen och kunskapen om Försäkringskassan förtroendesiffror genom att undersöka hur smärtdrabbade individer upplever mötet med myndigheten. Smärtdrabbade individer har som g

Sweden was unique in early modern Europe, in that its parliament included a peasant farmer estate. It is commonplace in Swedish and international research to consider the peasant farmer politicians as guarantors of a liberal and egalitarian path of development. In the Swedish-language literature on political history, these people are often seen as rather narrow-minded, their common political progr

We investigate the possibility of finding Earth-like planets in the habitable zone of 34 nearby FGK-dwarfs, each known to host one giant planet exterior to their habitable zone detected by RV. First we simulate the dynamics of the planetary systems in their present day configurations and determine the fraction of stable planetary orbits within their habitable zones. Then, we postulate that the ecc

The recent surge of scientific interest for lead halide perovskite semiconductors and optoelectronic devices has seen a mix of materials science sub-fields converge on the same "magical" crystal structure. However, this has ultimately shaped some ambiguity in the definitions shared between researchers across different research areas. For example, scientists aiming to decipher the nature of localiz

The known isospin-breaking contributions to the K → ππ amplitudes are reanalyzed, taking into account our current understanding of the quark masses and the relevant non-perturbative inputs. We present a complete numerical reappraisal of the direct CP-violating ratio ∈′/∈, where these corrections play a quite significant role. We obtain the Standard Model prediction Re (∈′/∈) = (14 ± 5) · 10−4, whi

The inclusive J/ψ production in Pb–Pb collisions at the center-of-mass energy per nucleon pair sNN = 5.02 TeV, measured with the ALICE detector at the CERN LHC, is reported. The J/ψ meson is reconstructed via the dimuon decay channel at forward rapidity (2.5 < y < 4) down to zero transverse momentum. The suppression of the J/ψ yield in Pb–Pb collisions with respect to binary-scaled pp collisions i

Infection of orthopedic implants is a growing clinical challenge to manage due to the proliferation of drug-resistant bacterial strains. In this study, we aimed to investigate whether the treatment of implants with ceragenin-90 (CSA-90), a synthetic compound based on endogenous antibacterial peptides, could prevent infection in a novel rat model of periprosthetic joint infection (PJI) challenged w

A dedicated sample of Large Hadron Collider proton-proton collision data at centre-of-mass energy s = 8 TeV is used to study inclusive single diffractive dissociation, pp → X p. The intact final-state proton is reconstructed in the ATLAS ALFA forward spectrometer, while charged particles from the dissociated system X are measured in the central detector components. The fiducial range of the measur

Nitrogen (N) and phosphorus (P) limitation constrains the magnitude of terrestrial carbon uptake in response to elevated carbon dioxide and climate change. However, global maps of nutrient limitation are still lacking. Here we examined global N and P limitation using the ratio of site-averaged leaf N and P resorption efficiencies of the dominant species across 171 sites. We evaluated our predictio

Diabetes is a chronic disease that is associated with devastating complications. Central to the development of diabetic macro-and microvascular disease is endothelial dysfunction, which appears well before any clinical sign, but importantly, is potentially reversible. We previously demonstrated that hyperglycemia activates the Ca2+/calcineurin transcription factor NFAT in conduit and medium-sized