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Chorea-acanthocytosis (ChAc), an autosomal recessive disorder, is associated with cognitive and behavioral abnormalities. Previous studies were focused around exploring the functional annotation of VPS13A gene in ChAc, whereas the genetic labyrinth underlying this disease and plausible drug targets were underexplored. In the present study, we have identified the pivotal genes and molecular pathway
We present a method for estimating fossil fuel methane emissions using observations of methane and ethane, accounting for uncertainty in their emission ratio. The ethane:methane emission ratio is incorporated as a spatially and temporally variable parameter in a Bayesian model, with its own prior distribution and uncertainty. We find that using an emission ratio distribution mitigates bias from us
BackgroundWe aimed to fill the gaps of knowledge concerning incidence rates and temporal trend, clinical features and risk factors for death for M. morganii bloodstream infections in south Sweden.MethodsThis was an observational, population-based study including all patients with at least one blood culture positive for Morganella morganii between 2013-2023 in Skåne, south Sweden.ResultsA total of
The geomagnetic field behavior in polar regions remains poorly understood and documented. Although a number of Late Holocene paleomagnetic secular variation (PSV) records exist from marginal settings of the Amerasian Basin in the Arctic Ocean, their age control often relies on a handful of radiocarbon dates to constrain ages over the past 4,200 years. Here we present well-dated Late Holocene PSV r
Non-medical prescription use of opioids (NMPUO) is a public health concern worldwide. Recently, tramadol misuse is increasing, but the systematic research of misuse of this specific opioid is limited. This study set out to assess the relationship between tramadol use and completion of treatment for substance use among adolescents and adults ≤ 25 years in an outpatient clinical setting. A retrospec
Visibility across supply chains has been a key concern for organisations for many years, but the tools and information systems to achieve real-time visibility have not been available until recently. In response to uncertainty and complexity, advanced information and communication technologies have been explored for supply chain visibility (SCV). However, managerial perspectives are largely absent
Objective: To assess the feasibility and acceptability of HPV self-sampling in Arusha region, northern Tanzania, because the ability for women to self-collect HPV samples can help reduce the number of health facility visits and improve cervical cancer screening coverage rates. Methods: We conducted a facility- and community-based cross-sectional study among 350 women aged 25–55 years in Arumeru di
Although gut microbiome dysbiosis has been illustrated in celiac disease (CD), there are disagreements about what constitutes these microbial signatures and the timeline by which they precede diagnosis is largely unknown. The study of high-genetic-risk patients or those already with CD limits our knowledge of dysbiosis that may occur early in life in a generalized population. To explore early gut
The current paper presents the results of behavioural observations in a field experiment with automated shuttles in Oslo, Norway. Video observations were conducted at five fixed locations along a challenging 1.2 km automated shuttle line with varying traffic conditions. Observed interactions between vulnerable road users and automated shuttles were coded using a predefined codebook, which allowed
Background: Most commonly, volume measurements are used to evaluate the effect of lymphedema treatment, but as the accumulation of lymph fluid can be local, this method may not always be the best. Tissue dielectric constant (TDC) can be applied to identify local lymphedema changes, but has not been used before when evaluating treatment in mild arm lymphedema. Thus, the overall aim of this study wa
Progressive age is the single major risk factor for neurodegenerative diseases. Cellular aging markers during Parkinson’s disease (PD) have been implicated in previous studies, however the majority of studies have investigated the association of individual cellular aging hallmarks with PD but not jointly. Here, we have studied the association of PD with three aging hallmarks (telomere attrition, m
The impact on the performance of GaN high electron mobility transistors (HEMTs) of in situ ammonia (NH3) pre-treatment prior to the deposition of silicon nitride (SiN) passivation with low-pressure chemical vapor deposition (LPCVD ) is investigated. Three different NH3 pre-treatment durations (0, 3, and 10 min) were compared in terms of interface properties and device performance. A reduction
Previous studies have demonstrated that environmental and temporal factors may affect the incidence of acute type A aortic dissection (ATAAD). Here, we aimed to investigate the hypothesis that national holidays and weekends influence the incidence of surgery for ATAAD. For the period 1st of January 2005 until 31st of December 2019, we investigated a hypothesised effect of (country-specific) nation
Idiopathic pulmonary fibrosis (IPF) is a fatal disease that exhibits patterns of usual interstitial pneumonia with honeycombing. IPF is characterized by damaged distal lung epithelium with excessive tissue scarring and extracellular matrix remodeling. The etiology of IPF is unknown and current therapies cannot end or reverse disease progression. Aberrant reactivation of developmental pathways is e
