Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory disease is caused by mutations encoding the mevalonate kinase (MVK) gene and is classified in the group o

Objective To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted diet. Study design We performed a cross-sectional study to establish cognitive functioning in children with tyrosinemia type I compared with their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales. To assess cognitive development over ti

The neuregulin 1 (NRG1) receptor ErbB4 is involved in the development of cortical inhibitory GABAergic circuits and NRG1-ErbB4 signaling has been implicated in schizophrenia (SCZ). A magnetic resonance spectroscopy (1 H-MRS) study has demonstrated that a single-nucleotide polymorphism in ERBB4, rs7598440, influences human cortical GABA concentrations. Other work has highlighted the significant imp

This chapter aims to discuss challenges related to governing in a digitalized era. In the public sector, digitalization and ICT solutions are regarded as a way to alleviate the burden of a sector under pressure. The suggested solutions are many, from computers making decisions to robots substituting teachers. Through digitalization resources can be freed up and public service provision be delivere

Ice multiplication by fragmentation during collision-freezing of supercooled rain or drizzle is investigated. A zero-dimensional dynamical system describes the time evolution of number densities of supercooled drops and ice crystals in a mixed-phase cloud. The characteristic time scale for this collision-freezing ice fragmentation is controlled by the collision efficiency, the number of ice fragme

The Paleogene history of biogenic opal accumulation in the North Atlantic provides insight into both the evolution of deepwater circulation in the Atlantic basin and weathering responses to major climate shifts. However, existing records are compromised by low temporal resolution and/or stratigraphic discontinuities. In order to address this problem, we present a multi-site, high-resolution record

In recent years, social housing providers in the UK have become influential actors in realizing the national government’s decarborization agenda. However, when decarbonization is considered in light of austerity measures and the privatization of public housing, a number of contradictions arise. From interviews and a workshop with policymakers and registered provi- ders in the city-region of Greate

Populärvetenskaplig sammanfattningEn byggnad innehåller många delar och olika komponenter som sammantaget ska tillhandahålla en funktion. För att en byggnad ska fungera som det är tänkt måste alla delar fungera tillsammans. Det finns negativa effekter som kan uppkomma om inte byggdelarnas sammantagna egenskaper beaktas, exempelvis fasadbränder. Detta medför i sin tur ett hållbarhetsproblem för denThe adverse consequences of building product performance pose sustainability problems for the built environment. Effective approaches to these problems require a clear understanding of building product information and its provision by manufacturers. This is an essential need for sustainable growth in industrialized construction, a system characterized by the expanded role of the manufacturing sect

Some of the most fundamental chemical building blocks of life on Earth are the metal elements. X-ray absorption spectroscopy (XAS) is an element-specific technique that can analyse the local atomic and electronic structure of, for example, the active sites in catalysts and energy materials and allow the metal sites in biological samples to be identified and understood. A microfluidic device capabl

This work reports on an effort to decipher the alignment of brain microvasculature endothelial cells to physical constrains generated via adhesion control on hydrogel surfaces and explore the corresponding responses upon glucose level variations emulating the hypo- and hyperglycaemic effects in diabetes. We prepared hydrogels of hyaluronic acid a natural biomaterial that does not naturally support

Deciphering the genotype–phenotype map necessitates relating variation at the genetic level to variation at the phenotypic level. This endeavour is inherently limited by the availability of standing genetic variation, the rate of spontaneous mutation to novo genetic variants, and possible biases associated with induced mutagenesis. An interesting alternative is to instead rely on the environment a

Chirality is a fundamental feature of asymmetric molecules and of critical importance for intermolecular interactions. The growth of amyloid fibrils displays a strong enantioselectivity, which is manifested as elongation through the addition of monomers of the same, but not opposite, chirality as the parent aggregate. Here we ask whether also secondary nucleation on the surface of amyloid fibrils,

Hudlymfom är en heterogen grupp av sjukdomar där lymfomcellerna primärt uppträder i huden. T-cellslymfom utgör 70–80 procent och B-cellslymfom 20–30 procent av de primära kutana lymfomen. Mycosis fungoides är det vanligaste hudlymfomet.Den kliniska bilden vid mycosis fungoides kan vara svårtolkad och kan likna vanliga hudsjukdomar som psoriasis och eksem. De histomorfologiska förändringarna vid tiPrimary cutaneous lymphoma is a heterogeneous group of diseases where the malignant lymphocytes are primarily present in the skin at the time of diagnosis. The most common type of primary cutaneous lymphoma is mycosis fungoides. Early stages of mycosis fungoides present with flat or slightly elevated red skin lesions and can resemble eczema or psoriasis. In advanced stages erythrodermia or skin tu

Acute as well as chronic pain syndromes are common after whiplash trauma and exercise therapy is proposed as one possible intervention strategy. The aim of the present systematic review was to evaluate the effect of exercise therapy in patients with Whiplash-Associated Disorders for the improvement of neck pain and neck disability, compared with other therapeutic interventions, placebo interventio

Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and