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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Background: This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.
Methods: We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board.
From bits to bedside: entering the age of digital twins in cardiac electrophysiology.
Europace
December 2024
Gottfried Schatz Research Center, Medical Physics and Biophysics, Medical University of Graz, Graz, Austria.
This State of the Future Review describes and discusses the potential transformative power of digital twins in cardiac electrophysiology. In this 'big picture' approach, we explore the evolution of mechanistic modelling based digital twins, their current and immediate clinical applications, and envision a future where continuous updates, advanced calibration, and seamless data integration redefine clinical practice of cardiac electrophysiology. Our aim is to inspire researchers and clinicians to embrace the extraordinary possibilities that digital twins offer in the pursuit of precision medicine.
View Article and Find Full Text PDFAntiviral Use Among Children Hospitalized With Laboratory-Confirmed Influenza Illness: A Prospective, Multicenter Surveillance Study.
Clin Infect Dis
December 2024
Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Background: Guidelines state that all hospitalized children with suspected or confirmed influenza receive prompt treatment with influenza-specific antivirals. We sought to determine the frequency of, and factors associated with, antiviral receipt among hospitalized children.
Methods: We conducted active surveillance of children presenting with fever or respiratory symptoms from 1 December 2016 to 31 March 2020 at 7 pediatric medical centers in the New Vaccine Surveillance Network.
Ventricular septal defect characteristics influence presence of septal anatomical isthmuses in patients with repaired tetralogy of Fallot.
Europace
December 2024
Department of Cardiology, Heart Lung Centre, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Aims: In repaired tetralogy of Fallot (rTOF), the septal anatomical isthmuses (AI), AI 3, between the ventricular septal defect (VSD) and pulmonary annulus, and AI 4, between the VSD and tricuspid annulus, are important ventricular tachycardia (VT) substrates when slow conducting. Our aim was to assess the influence of VSD characteristics, specifically the presence of muscular or fibrous tissue at its border, on the presence or absence of septal AIs, potentially related to VT.
Methods And Results: All consecutive rTOF patients who underwent electroanatomical mapping between January 2005 and March 2023 with an available surgical report providing VSD details (n = 91) were included.
Daily rhythms drive dynamism in sleep, oscillations and interneuron firing, while excitatory firing remains stable across 24 h.
Eur J Neurosci
January 2025
Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, USA.
The adaptation to the daily 24-h light-dark cycle is ubiquitous across animal species and is crucial for maintaining fitness. This free-running cycle occurs innately within multiple bodily systems, such as endogenous circadian rhythms in clock-gene expression and synaptic plasticity. These phenomena are well studied; however, it is unknown if and how the 24-h clock affects electrophysiologic network function in vivo.
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