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The polymerase gamma (POLG) gene mutation is associated with mitochondria and metabolism disorders, resulting in heterogeneous responses to immunological activation and posing challenges for mitochondrial disease therapy. Optical metabolic imaging captures the autofluorescent signal of two coenzymes, NADH and FAD, and offers a label-free approach to detect cellular metabolic phenotypes, track mitochondria morphology, and quantify metabolic heterogeneity. In this study, fluorescence lifetime imaging (FLIM) of NAD(P)H and FAD revealed that POLG mutator macrophages exhibit a decreased NAD(P)H lifetime, and optical redox ratio compared to the wild-type macrophages, indicating an increased dependence on glycolysis.
View Article and Find Full Text PDFTandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques . Most previous studies profiling tandem repeats genome-wide have reduced the description of each locus to the singular value of the length of the entire repetitive locus . Here we introduce a comprehensive database of 3.
View Article and Find Full Text PDFDevelopment of right ventricular electromechanical dyssynchrony following surgical repair of tetralogy of Fallot in infants.
Front Pediatr
January 2025
Division of Pediatric Cardiology, Division of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City, Kansas City, MO, United States.
Background: In adolescents and adults with tetralogy of Fallot (TOF), right ventricle (RV) electromechanical dyssynchrony (EMD) due to right bundle branch block (RBBB) is associated with reduced exercise capacity and RV dysfunction. While the development of RBBB following surgical repair of tetralogy of Fallot (rTOF) is a frequent sequela, it is not known whether EMD is present in every patient immediately following rTOF. The specific timing of the onset of RBBB following rTOF therefore provides an opportunity to assess whether acute RBBB is associated with the simultaneous acquisition of EMD.
View Article and Find Full Text PDFSuccessful Mechanical Thrombectomy for Bilateral Anterior Cerebral Artery Occlusions in a Rare Anatomical Variant: A Case Report.
Int Med Case Rep J
January 2025
Department of Cardiology, Rugao Affiliated Hospital of Nantong University, Rugao People's Hospital, Nantong, Jiangsu, People's Republic of China.
Background: Acute ischemic stroke (AIS) is usually caused by acute occlusion of the cerebral artery. Bilateral anterior cerebral arteries (ACAs) originating from the anterior communicating branch of the same internal carotid artery are a rare anatomical variation in clinical practice. Mechanical thrombectomy (MT) of simultaneous acute occlusion of the bilateral ACAs with this variation has rarely been reported.
View Article and Find Full Text PDFCan fundus features tell us something about 3D eye shape?
Ophthalmic Physiol Opt
January 2025
Robert O Curle Ophthalmology Suite, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh, UK.
Purpose: To determine whether imaging features derived from fundus photographs contain 3D eye shape information beyond that available from spherical equivalent refraction (SER).
Methods: We analysed 99 eyes of 68 normal adults in the UK Biobank. An ellipsoid was fitted to the entire volume of each posterior eye (vitreous chamber without the lens)-segmented from magnetic resonance imaging of the brain.
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