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Limbic system synaptic dysfunctions associated with prion disease onset.
Acta Neuropathol Commun
December 2024
Laboratory of Neurological Infections and Immunity, National Institute of Allergy and Infectious Diseases, Division of Intramural Research, Rocky Mountain Laboratories, National Institutes of Health, Hamilton, MT, USA.
Misfolding of normal prion protein (PrP) to pathological isoforms (prions) causes prion diseases (PrDs) with clinical manifestations including cognitive decline and mood-related behavioral changes. Cognition and mood are linked to the neurophysiology of the limbic system. Little is known about how the disease affects the synaptic activity in brain parts associated with this system.
View Article and Find Full Text PDFSplice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.
J Allergy Clin Immunol
December 2024
Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, Md. Electronic address:
Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of PLCG2 cause PLCγ2-associated immune dysregulation (PLAID), a family of conditions classified by mutational effect. PLAID with cold urticaria (PLAID-CU) is caused by in-frame deletions of PLCG2 that are dominant negative at physiologic temperatures but become spontaneously active at subphysiologic temperatures.
View Article and Find Full Text PDFDesmin-related cardiomyopathy in a young woman presented with an infra-Hisian atrioventricular block.
Cardiol Young
December 2024
Department of Cardiology, Leiria Local Health Unit, Leiria, Portugal.
A 17-year-old woman was admitted due to a complete atrioventricular block. Comprehensive analytic and imaging studies were conducted to determine the aetiology. Cardiac magnetic ressonance imaging revealed concentric hypertrophy of the left ventricle and diffuse intramural late enhancement gadolinium.
View Article and Find Full Text PDFSpontaneous coronary artery dissection (SCAD) is an uncommon but important cause of acute coronary syndrome (ACS), particularly in postpartum women without traditional cardiac risk factors. Our case involves a 29-year-old postpartum woman who presented with severe substernal chest pain eight days after an emergency cesarean section for pregnancy-associated hypertension. Electrocardiography showed ST elevation in the inferior and posterior leads, and coronary angiography revealed a spontaneous dissection in the left circumflex artery (LCx) with an intramural hematoma, alongside a dissection of the right coronary artery (RCA) extending from the ostium to the mid-vessel.
View Article and Find Full Text PDFThe Transcriptional Program of Phage K Is Affected by a Host Mutation That Confers Phage K Resistance.
Viruses
November 2024
Center for Biologics Evaluation and Research, United States Food and Drug Administration, Silver Spring, MD 20993, USA.
To better understand host-phage interactions and the genetic bases of phage resistance in a model system relevant to potential phage therapy, we isolated several spontaneous mutants of the USA300 clinical isolate NRS384 that were resistant to phage K. Six of these had a single missense mutation in the host gene, which encodes the RNA polymerase β' subunit. To examine the hypothesis that mutations in the host RNA polymerase affect the transcription of phage genes, we performed RNA-seq analysis on total RNA samples collected from NRS384 wild-type (WT) and mutant cultures infected with phage K, at different timepoints after infection.
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