Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause of the patient’s disease. We compiled a consecutive single-center series of 87 patients from 76 families with progressive ataxia of known or unknown etiology. W

Previous research has shown that the polarization ratio technique allows the characterization of the surface mean diameter, D21, of droplets forming dilute sprays. However, its application to optically dense sprays has posed significant challenges due to the presence of multiple light scattering. Additionally, errors in measurement can arise from the angular dependence of the signal. In this Lette

Background: Sleep problems (insomnia) and chronic pain are associated. Chronic pain and insomnia/insufficient sleep quality share similar symptoms and features. Although they have a bidirectional relationship, more research is needed to understand how they interact via mediators and how moderators influence this relationship. Aims: In this large clinical registry-based cohort study (N = 6,497), we

Following the 2016 elections, several feminist groups emerged in the U.S. in response to the election of President Trump. This manuscript focuses on a feminist assembly located in marginal and conservative Appalachia. Grounded in reflexivity, we employ affective solidarity to better understand feminist organizing in a post-Trump rural Appalachian town. Based on a collaborative ethnography, includi

Paleogenomics continues to yield valuable insights into the evolution, population dynamics, and ecology of our ancestors and other extinct species. However, DNA sequencing cannot reveal tissue-specific gene expression, cellular identity, or gene regulation, which are only attainable at the transcriptional level. Pioneering studies have shown that useful RNA can be extracted from ancient specimens

Active vitamin D is commonly used to control secondary hyperparathyroidism in dialysis patients, but it is unknown whether active vitamin D directly improves bone strength, independently of its ability to suppress parathyroid hormone (PTH). We analyzed the association between the prescription of active vitamin D and incidence of any fracture and hip fracture in 41,677 in-center hemodialysis patien

The migration between Sweden and Norway, Denmark and Finland has a long history and has been on a large scale since 1954, when intra-Nordic migrants gained access to the Swedish welfare system. Yet the issues related to Nordic migration are rarely, if ever, discussed, either in research or in the media. In this chapter we will present an analysis of novels portraying the fate of Nordic immigrants

Quantifying how variable temperature regimes affect energy expenditure during development is crucial for understanding how future thermal regimes may impact early life survival and population persistence. Developmental cost theory (DCT) suggests that there is an optimal temperature (Topt) that minimises energy expenditure during development (the ‘cost of development‘). Exposure to fluctuating temp

Introduction: Radiological assessment is necessary to diagnose spontaneous intracerebral hemorrhage (ICH) and traumatic brain injury intracranial hemorrhage (TBI-bleed). Artificial intelligence (AI) deep learning tools provide a means for decision support. This study evaluates the hemorrhage segmentations produced from three-dimensional deep learning AI model that was developed using non-contrast

Kort betraktelse över poesiupplevelsen som del av förord till poesiantologi

Background: It is unclear whether unipolar (UHA) or bipolar (BHA) hemiarthroplasty should be the preferred treatment of femoral neck fracture (FNF). Aim: We investigated the reoperation rate at 13 years post-fracture after BHA and UHA as treatment of FNF, including a subgroup analysis of individuals who survived 5 years or more, and described the reasons for reoperation after BHA and UHA respectiv

Cancer is one of the leading causes of death globally. Novel therapeutics is urgently needed to advance treatment, especially for generalized disease where current treatment options have a poor prognosis. In particular, targeted therapy that can address genetic changes would be of great value. RNA interference is an evolutionary conserved gene regulatory mechanism that can be used by introducing e

Healthcare organizations are under increasing pressure to account for their performance to outside constituencies. This chapter reviews the background, nature, and consequences of organized efforts to enhance transparency in healthcare. The driving forces differ between regions, but the trends are broad enough to result in similar developments across Europe. Market reforms and quality concerns cre

Sepsis is a global health challenge, with over 49 million cases annually. Recent medical advancements have increased in-hospital survival rates to approximately 80%, but the escalating incidence of sepsis, owing to an ageing population, rise in chronic diseases, and antibiotic resistance, have also increased the number of sepsis survivors. Subsequently, there is a growing prevalence of “post-sepsi

Tirzepatide is a dual GIP and GLP-1 receptor co-agonist which is approved for glucose-lowering therapy in type 2 diabetes. Here, we explored its effects on beta cell function, insulin sensitivity and insulin-independent glucose elimination (glucose effectiveness) in normal mice. Anesthetized female C57/BL/6 J mice were injected intravenously with saline or glucose (0.125, 0.35 or 0.75 g/kg) with o