Results 151 to 160 of about 177,391 (311)

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang   +7 more
wiley   +1 more source

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer   +4 more
wiley   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

Randomized, placebo-controlled phase 3 trial evaluating safety, immunogenicity, and reactogenicity of RSVPreF3-Mat in high-risk pregnant women and their infants. [PDF]

open access: yesHum Vaccin Immunother
Bebia Z   +14 more
europepmc   +1 more source

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

open access: yesEpilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron   +7 more
wiley   +1 more source

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

open access: yesNutrients
Verduci E   +9 more
europepmc   +1 more source

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