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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFIdentifying emerging drivers and interventions to reduce vaccine hesitancy among long-term care facility nursing staff.
Gerontologist
January 2025
Population Health Initiative, University of Washington, Seattle, WA, USA.
Background And Objectives: The study aimed to identify key drivers of vaccine hesitancy among healthcare workers (HCWs) employed at Long-term care facilities (LTCF) within selected states. It also sought to determine which interventions, policies, and programs effectively reduced HCW vaccine hesitancy for COVID-19 and influenza.
Research Design And Methods: The study employed a mixed methods approach, combining secondary analysis of the Behavioral Risk Factor Surveillance System (BRFSS) data, survey research, and focus groups.
<b>Background and Objective:</b> It is well documented that Whole Genome Sequencing (WGS) has recently used to explore new resistance patterns and track the dissemination of extensive and pan drug-resistant microbes in healthcare settings. This article explores the link between traumatic infections caused by road traffic accidents (RTAs) leading to coma and the development of chest infections caused by extensively drug-resistant (XDR) <i>Klebsiella pneumoniae</i> and <i>Pseudomonas aeruginosa</i>. <b>Materials and Methods:</b> The study was carried out from March to December 2022 which included a 45-year-old male patient admitted to the ICU of Al Ramadi Teaching Hospitals following a severe RTA that resulted in a TBI and subsequent coma.
View Article and Find Full Text PDFShifting paradigms in primary aldosteronism: reconsideration of screening strategy via integrating pathophysiological insights.
Front Endocrinol (Lausanne)
January 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan.
Several decades have passed since the description of the first patient with primary aldosteronism (PA). PA was initially classified in two main forms: aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA). However, the pathogenesis of PA has now been shown to be far more complex.
View Article and Find Full Text PDFIntrinsic Gene Expression Correlates of the Biophysically Modeled Diffusion Magnetic Resonance Imaging Signal.
Biol Psychiatry Glob Open Sci
March 2025
Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Magnetic resonance imaging (MRI) is a powerful tool to identify the structural and functional correlates of neurological illness but provides limited insight into molecular neurobiology. Using rat genetic models of autism spectrum disorder, we show that image texture-processed neurite orientation dispersion and density imaging (NODDI) diffusion MRI possesses an intrinsic relationship with gene expression that corresponds to the biophysically modeled cellular compartments of the NODDI diffusion signal. Specifically, we demonstrate that neurite density index and orientation dispersion index signals are correlated with intracellular and extracellular gene expression, respectively.
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