Neuropsychiatric disturbances with altered social cognition, depression and anxiety are among the most debilitating early features in the fatal neurodegenerative disorder Huntington disease (HD) which is caused by an expanded CAG repeat in the huntingtin gene. The underlying neurobiological mechanisms are not known. Neuropathological analyses of postmortem human HD hypothalamic tissue have demonst

This study aims to enhance our understanding of organizational identity work (OIW), building upon previous studies’ emphasis on the usefulness of understanding OIW in terms of storytelling. The paper offers an extended vocabulary for making sense of alternative narration forms. Based on an in-depth study of a humanitarian organization in Sweden, the discursive OIW struggles of employees in times o

Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heteroz

Introduction: Preeclampsia (PE) is a human specific pregnancy-related syndrome of unknown etiology that affects 2–8 % of pregnancies. Polymorphism in maternal Killer Cell Immunoglobulin-like Receptors (KIRs) and the ligand fetal Human Leukocyte Antigen-C (HLA-C) may predispose pregnant mothers for PE due to defective trophoblast invasion into the maternal decidua. Our study aimed to investigate th

The functional trait framework provides a powerful corpus of integrated concepts and theories to assess how environmental factors influence ecosystem functioning through community assembly. While common in plant ecology, this approach is under-used in microbial ecology. After an introduction of this framework in the context of microbial ecology and enzymology, we propose an approach 1) to elucidat

Sustainability transitions are commonly considered impossible without regime change. Theoretical work on regime change has mainly focused on niches and landscapes and less on change ‘from within’. Empirical analysis helps theorising endogenous regime change. Conceptualising regimes as semi-coherent entities composed of multiple ‘institutional logics’, we analyse the endogenous regime change in Dut

Today, every new building is constructed with the ambition of it having a very low energy demand or even being completely neutral with regard to supply and demand over a year. In modern low energy or nearly zero energy residential buildings like these, the behaviour of the occupants becomes increasingly more significant in terms of the energy performance of the building. Occupants who are present

CONTEXT: Whether multisystem morbidity in Cushing's disease (CD) remains elevated during long-term remission is still undetermined. OBJECTIVE: To investigate comorbidities in patients with CD. DESIGN, SETTING, AND PATIENTS: A retrospective, nationwide study of patients with CD identified in the Swedish National Patient Register between 1987 and 2013. Individual medical records were reviewed to ver

We investigate the angle-resolved photoelectron spectra from laser-Assisted photoionization for helium and neon atoms using an ab initio method based on time-dependent surface flux and configuration interaction singles. We find that the shape of the distributions can be interpreted using a propensity rule, an intrinsic difference in the absorption and the emission processes, as well as interferenc

We present calculations on the atomic delay in photoionzation obtained with different combinations of linearly and circularly polarized light, and show how a tensor operator approach can be used to readily obtain results for any combination from a single calculation of the radial integrals. We find that for certain choices of polarization and detection geometry a single time-delay measurement is e

Background: Women who deliver pre-term have been reported to have increased future risks of cardiometabolic disorders. However, their long-term risks of ischemic heart disease (IHD) and whether such risks are due to shared familial factors are unclear. A better understanding of these risks may help improve long-term clinical follow-up and interventions to prevent IHD in women. Objectives: The purp

In a pioneering study in New England Journal of Medicine, Schweitzer et al. (2020) report on a patient with Parkinson's disease who received a graft of dopamine neurons obtained from in vitro differentiated induced pluripotent stem cells, derived from the patient's own skin fibroblasts, showing the feasibility of autologous transplantation for dopamine cell replacement.

OBJECTIVE: The aim of this study was to investigate if there is a causal relationship between circulating levels of TIM-1 (T-cell immunoglobulin and mucin domain 1) and incidence of stroke. Approach and Results: Plasma TIM-1 was analyzed in 4591 subjects (40% men; mean age, 57.5 years) attending the Malmö Diet and Cancer Study. Incidence of stroke was studied in relation to TIM-1 levels during a m