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Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause had remained unknown. Here, we report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in these families. The expansions were identified in whole-genome datas

Background: Immune checkpoint inhibitors are now a part of the treatment arsenal for triple-negative breast cancer (TNBC) but refinement of PD-L1 as a prognostic and predictive biomarker is a clinical priority. We aimed to evaluate the relevance of novel PD-L1 immunohistochemical (IHC) thresholds in TNBC with regard to PD-L1 gene expression, prognostic value, tumor infiltrating lymphocytes (TILs),

Objective: Studies have implied that fibroblasts may act as regulators of immune cells in the tumor microenvironment (TME). We investigated the clinical relevance of fibroblast activation protein (FAP) positive stroma in high-grade serous ovarian cancer (HGSC) in relation to CD8+ lymphocyte's infiltration. Methods: In a discovery cohort (N = 113) of HGSC, expression of FAP and CD8 in the TME was a

4MOST is a new high-multiplex, wide-field spectroscopic survey facility under construction for ESO's 4m-VISTA telescope at Paranal, Chile. Its key specifications are: a large field of view of 4.4 square degrees, a high multiplex fibre positioner based on the tilting spine principle that positions 2436 science fibres in the focal surface of which 1624 fibres go to two low-resolution optical spectro

The field of organ transplantation is experiencing a transformative shift with the rise of Advanced Therapy Medicinal Products (ATMPs), which include gene therapies, somatic cell therapies, and tissue-engineered products. These therapies offer new, potentially curative treatments for longstanding medical challenges, impacting numerous patients. However, their adoption is hindered by complex regula

Amplification of the MDM2 and CDK4 genes on chromosome 12 is commonly associated with low-grade osteosarcomas. In this study, we conducted high-resolution genomic and transcriptomic analyses on 33 samples from 25 osteosarcomas, encompassing both high- and low-grade cases with MDM2 and/or CDK4 amplification. We discerned four major subgroups, ranging from nearly intact genomes to heavily rearranged

To effectively navigate out of the climate crisis, a new interdisciplinary approach is needed to guide and facilitate research that integrates diverse understandings of how transitions evolve in intertwined social–environmental systems. The concept of tipping points, frequently used in the natural sciences and increasingly in the social sciences, can help elucidate processes underlying major socia

BACKGROUND: The transition to undertaking rehabilitation in the home or local neighbourhood calls for an extensive understanding of which aspects of the built environment are important for people with stroke.OBJECTIVE: This qualitative study aims to explore how home and local neighbourhood environments support or hinder rehabilitation for people who have had a stroke from the perspectives of vario

Background: Per- and polyflouralkyl substances (PFAS) are a group of persistent chemicals used extensively in industries and consumer products due to their water-repellent properties. Studies have linked PFAS exposure to adverse health effects, and human exposure to PFAS, especially during pregnancy, is of great concern. In this study, we report how serum PFAS concentrations during pregnancy corre

BACKGROUND: Artificial intelligence (AI) is gaining traction in medicine and surgery. AI-based applications can offer tools to examine high-volume data to inform predictive analytics that supports complex decision-making processes. Time-sensitive trauma and emergency contexts are often challenging. The study aims to investigate trauma and emergency surgeons' knowledge and perception of using AI-ba

Background: Nodal assessment in gallbladder cancer remains challenging, particularly in incidental gallbladder cancer. This understages the number of patients with node-positive disease, resulting in prognostic inaccuracy and insufficient adjuvant treatment. This study aimed to identify risk factors for positive nodes in gallbladder cancer and to compare prognostic discrimination of available noda

UNLABELLED: Children with congenital and acquired heart disease have an increased risk of thromboembolic events. There is a paucity of evidence on the optimal approach to thromboprophylaxis for this population, and the introduction of direct oral anticoagulants in recent years has led to significant variation in clinical practice. The aim of the study was to describe current practice in thrombopro

Historiskt sett har människor gjort invändningar grundade på tankefrihet, samvetsfrihet och religionsfrihet i förhållande till obligatorisk värnpliktstjänstgöring. Denna samvetsvägran inom militären är en erkänd rätt i nationella, regionala och internationella människorättsinstrument. I den Europeiska konventionen om skydd för de mänskliga rättigheterna och de grundläggande friheterna är denna rätHistorically, objections based on the freedom of thought, conscience and religion have been invoked in relation to compulsory military service. These conscientious objections are protected by national, regional and international human rights instruments. In the European Convention on Human Rights this right is grounded in Article 9 on the freedom of thought, conscience and religion. In Europe, the

The Preaching Maids in 18th Century Sweden: medical and theological conceptions of supernatural fast, enthusiasm and possession. This thesis examines the relationship between medicine and theology in 18th century Sweden through supernatural fast, enthusiasm (svärmeri) and possession, three terms that all encompass religiously understood diseases. In the thesis these conditions are interpreted as b

The aim was to identify treatment-related risk factors for diabetes in 5-year survivors of childhood cancer (CCS). This case-cohort study within Adult Life after Childhood Cancer in Scandinavia (ALiCCS) included 140 CCS with diabetes and a subcohort of 390 randomly selected CCS. Incidence rate ratios (IRRs) and 95% confidence intervals (CIs) were calculated to assess the association between treatm

The inclusion of the knowledge and perspectives of Indigenous peoples and local communities (IPLC) in global sciencepolicy processes are increasingly being mandated. This is indicative of the recognition of their expertise and worldviews to inform social and ecological decisions. The IPBES Values Assessment (VA) explicitly highlighted the necessity for a nuanced engagement of different actors whil

We simulate hadrons impinging on a homogeneous lead tungstate ((Formula presented.)) calorimeter using GEANT4 software to investigate how the resulting light yield and its temporal structure, as detected by an array of light-sensitive sensors, can be processed by a neuromorphic computing system. Our model encodes temporal photon distributions as spike trains and employs a fully connected spiking n

Spatially fractionated radiotherapy (SFRT) is emerging as a powerful tool in cancer therapy for patients who are ineligible for treatment with clinically established irradiation techniques. Microbeam radiotherapy (MRT) is characterized by spatial dose fractionation in the micrometre range. This presents challenges in both treatment planning and dosimetry. While a dosimetry system with a spatial re

This paper introduces MNE-RT, a Python package designed for real-time neural feature extraction from magne-toencephalography (MEG) and electroencephalography (EEG) signals in Brain-Computer Interface (BCI) systems. The package incorporates efficient algorithms spanning traditional univariate metrics, such as frequency band power and entropy, to advanced bivariate connectivity measures. It is compa

BACKGROUND: Dapagliflozin improved cardiometabolic outcomes following myocardial infarction in patients without prior type-2 diabetes (T2DM) in the DAPA-MI (dapagliflozin in patients with myocardial infarction) trial. The effect of glycemic status and body mass index (BMI) post–myocardial infarction requires elucidation. METHODS: Participants with T2DM diagnosis, without baseline hemoglobin A1c, o