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Heavy Neutral Leptons via Axionlike Particles at Neutrino Facilities.
Phys Rev Lett
December 2024
Northwestern University, Department of Physics and Astronomy, 2145 Sheridan Road, Evanston, Illinois 60208, USA.
Heavy neutral leptons (HNLs) are often among the hypothetical ingredients behind nonzero neutrino masses. If sufficiently light, they can be produced and detected in fixed-target-like experiments. We show that if the HNLs belong to a richer-but rather generic-dark sector, their production mechanism can deviate dramatically from expectations associated with the standard-model weak interactions.
View Article and Find Full Text PDFInvestigating Cardiac Amyloidosis: A Primer for Clinicians.
R I Med J (2013)
February 2025
Department of Medicine, Division of Cardiology, Alpert Medical School of Brown University, Providence RI.
Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging.
View Article and Find Full Text PDFNovel 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 PDF<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 PDFLiquid biopsy for diagnosing epithelial ovarian cancer: quantification of cell-free DNA and p53 mutational analysis.
Int J Gynecol Cancer
January 2025
All India Institute of Medical Sciences, Department of Obstetrics and Gynecology (Gynecologic Oncology), Rishikesh, Uttarakhand, India. Electronic address:
Objective: To isolate and quantify cell-free DNA, analysis for p53 mutations, and correlation with tumor burden in women with epithelial ovarian cancer compared with benign and borderline epithelial ovarian tumors.
Methods: In this case-control study, plasma samples of eligible women collected 1 hour before surgery and based on final histopathology, women with epithelial ovarian cancer recruited as cases and borderline, and benign ovarian tumors as controls. Cell-free DNA extracted from plasma serum and quantified using Nanodrop Spectrophotometer.
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