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The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome sequencing in two siblings with progressive ataxia and muscular weakness and identified a novel homozygous splice mutation (c.3020-1G > A) in neurofascin (NFASC). In RNA extracted from fibroblasts, we showed that the mutation resulted in inframe ski
Background: Advanced interatrial block (aIAB), which is associated with incident atrial fibrillation and stroke, occurs in the setting of blocked interatrial conduction. Atrial amyloid deposition could be a possible substrate for reduced interatrial conduction, but the prevalence of aIAB in patients with transthyretin cardiac amyloidosis (ATTR-CA) is unknown. We aimed to describe the prevalence of
Aims: To investigate what NSE levels predict long-term neurological prognosis at 24, 48 and 72 hours after ROSC in a cohort of out-of-hospital cardiac arrest and to validate previously suggested NSE cut-offs, including the latest ERC guidelines (2021). Methods: Patients admitted to intensive care units in four hospitals in Southern Sweden between 2014–2018 were included. Blood samples were handled
The dense accumulation of α-Synuclein fibrils in neurons is considered to be strongly associated with Parkinson’s disease. These intracellular inclusions, called Lewy bodies, also contain significant amounts of lipids. To better understand such accumulations, it should be important to study α-Synuclein fibril formation under conditions where the fibrils lump together, mimicking what is observed in
In this article, a novel vector network analyzer (VNA)-based ultrawideband (UWB) channel sounder using radio-over-fiber (RoF) techniques is presented. Benefiting from the usage of optical fiber cable, the measurement range and the dynamic range are significantly increased compared with the conventional coaxial-based VNA system. Specifically, using RoF increases the dynamic range to a maximum of 11
Climate change influences population demography by altering patterns of gene flow and reproductive isolation. Direct mutation rates offer the possibility for accurate dating on the within-species level but are currently only available for a handful of vertebrate species. Here, we use the first directly estimated mutation rate in birds to study the evolutionary history of pied flycatchers (Ficedula
Railway traffic is growing, resulting in a highly interconnected train network. Due to the interdependence between trains’ activities, a better understanding of train passes and their effects can ensure dispatching decisions made have minimum risk of delays. The impacts of train pass on dwell time delays were investigated using historical Swedish railway operation data. Three scenarios were consid
Introduction. Sleeping difficulties are common in children with attention deficit hyperactivity disorder (ADHD). A sleep intervention with weighted blankets was designed to increase current understanding of using weighted blankets to target children’s individual needs in connection with sleep and daytime functioning. Aim. To explore how children with ADHD and sleeping difficulties experience the u
The hospital morbidity and mortality of 100 patients operated with two internal thoracic arteries with or without additional vein grafts (BITA group) were compared with a matched group of 100 patients operated with one left internal thoracic artery (ITA) on the anterior descending artery with additional vein grafts (LITA control group). In each study group, 3% of the patients had diabetes mellitus
In the Ordovician limestone of the Thorsberg quarry (South Sweden), about 130 meteorites have been found. Among the extraterrestrial material, several terrestrial Cr-spinels and zircons have been found too. In particular, in the interval 416–447 cm above the Arkeologen bed, terrestrial Cr-spinels, compositionally different from previous studied Cr-spinels of the same sequence, are present. Previou
Ionogels offer huge potential for a number of applications including wearable electronics and soft sensors. However, their synthesis has been limited and often relies on non-renewable or non-biocompatible components. Here we present a novel two-component ionogel made using just deep eutectic solvents (DESs) and cellulose. DESs offer a non-volatile alternative to hydrogels with highly tuneable prop
Battery thermal management (BTM) plays a significant role in the safety and reliability of autonomous underwater vehicles (AUV) at higher speeds. In this study, a nanoparticle/phase change material (nano-PCM) composite is proposed for the BTM of an AUV. The effects of nanoparticle loading percentage (φ = 5, 10, and 15%) and nanoparticle filling range (α = 30, 60, 90, and 120°) on the battery tempe
A novel membraneless β-glucan/O2 enzymatic fuel cell was developed by combining a bioanode based on buckypaper modified with co-immobilized Agaricus meleagris pyranose dehydrogenase (AmPDH) and Rhodothermus marinus β-glucosidase (RmBgl3B) (RmBgl3B-AmPDH/buckypaper) with a biocathode based on solid graphite modified with Myrothecium verrucaria bilirubin oxidase (MvBOx/graphite). AmPDH was connected
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3. Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing
The aim of this study is to investigate the association between self-perceived voice problems and social participation among older adults (65-80 years). A complementary aim was to investigate the association between self-perceived voice problems and physical activity. Method Participants were recruited through social media and asked to complete an online questionnaire. In total, 152 individuals we
Clonal hematopoiesis of indeterminate potential (CHIP) is associated with an increased risk of cardiovascular diseases (CVDs), putatively via inflammasome activation. We pursued an inflammatory gene modifier scan for CHIP-associated CVD risk among 424,651 UK Biobank participants. We identified CHIP using whole-exome sequencing data of blood DNA and modeled as a composite, considering all driver ge
