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Cardiac sarcoidosis; update for the heart failure specialist.
Curr Opin Cardiol
January 2025
Division of Cardiology, University of Ottawa Heart Institute, University of Ottawa, Faculty of Medicine, Tier 1 Clinical Research Chair in Cardiac Electrophysiology, Ottawa, ON, Canada.
Purpose Of Review: This review presents contemporary data on epidemiology, common presentations, investigations and diagnostic algorithms, treatment and prognosis. It particularly focuses on topics of most relevance to heart failure specialists, including what left ventricle (LV) function changes can be expected after treatment and outcomes to all standard and advanced heart failure therapies.
Recent Findings: Around 5% of sarcoidosis patients have clinically manifest cardiac sarcoidosis (CS), presenting with significant arrhythmias (such as conduction disturbances and ventricular arrhythmias) or newly developed unexplained heart failure.
Genetically predicted brain cortical structure mediates the causality between insulin resistance and cognitive impairment.
Front Endocrinol (Lausanne)
January 2025
Department of Neurology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Background: Insulin resistance is tightly related to cognition; however, the causal association between them remains a matter of debate. Our investigation aims to establish the causal relationship and direction between insulin resistance and cognition, while also quantifying the mediating role of brain cortical structure in this association.
Methods: The publicly available data sources for insulin resistance (fasting insulin, homeostasis model assessment beta-cell function and homeostasis model assessment insulin resistance, proinsulin), brain cortical structure, and cognitive phenotypes (visual memory, reaction time) were obtained from the MAGIC, ENIGMA, and UK Biobank datasets, respectively.
Validating a clinically based MS-MLPA threshold through comparison with Sanger sequencing in glioblastoma patients.
Clin Epigenetics
January 2025
Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and 1st Faculty of Medicine of Charles University in Prague, U Nemocnice 499/2, 128 00, Prague, Czech Republic.
Background: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment.
View Article and Find Full Text PDFGenomic insights into the biogeography and evolution of Galápagos iguanas.
Mol Phylogenet Evol
January 2025
Biology, Universita degli Studi di Roma Tor Vergata, Italy.
Galápagos iguanas are a monophyletic group endemic to the Galápagos archipelago, comprising the marine iguana Amblyrhynchus cristatus and three species of land iguanas: Conolophus subcristatus, C. pallidus and C. marthae.
View Article and Find Full Text PDFIdentification of Functionally-Relevant Lentivirus Integration Sites in an Insertional Mutagenesis Cell Library.
J Vis Exp
January 2025
State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University;
The extent of functional sequences within the human genome is a pivotal yet debated topic in biology. Although high-throughput reverse genetic screens have made strides in exploring this, they often limit their scope to known genomic elements and may introduce non-specific effects. This underscores the urgent need for novel functional genomics tools that enable a deeper, unbiased understanding of genome functionality.
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