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Genetic and Molecular Underpinnings of Atrial Fibrillation.
NPJ Cardiovasc Health
December 2024
Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA.
Atrial fibrillation (AF), the most common sustained arrhythmia, increases stroke and heart failure risks. Here we review genes linked to AF and mechanisms by which they alter AF risk. We highlight gene expression differences between atrial and ventricular cardiomyocytes, regulatory mechanisms responsible for these differences, and their potential contribution to AF.
View Article and Find Full Text PDFHeterozygous variants in AP4S1 are not associated with a neurological phenotype.
Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFIntraoperative Superficial Temporal Artery-middle Cerebral Artery Bypass Failure during Combined Bypass Surgery in Children with Moyamoya Disease.
Neurol Med Chir (Tokyo)
January 2025
Department of Neurosurgery, Tohoku University Graduate School of Medicine.
Pediatric patients with moyamoya disease frequently show rapid progression with a high risk of stroke. Indirect revascularization is widely accepted as a surgical treatment for pediatric moyamoya disease, but it does not augment cerebral blood flow immediately, which leaves patients at risk for stroke peri-operatively. This delay in flow augmentation may make adding direct bypass the better option.
View Article and Find Full Text PDFTreatment of pediatric drug-resistant generalized epilepsy with responsive neurostimulation of the centromedian nucleus of the thalamus: A case series of seven patients.
Epilepsy Res
January 2025
Division of Pediatric Neurology, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 8th Floor Faculty Pavilion, 4401 Penn Ave., Pittsburgh, PA 15224, United States. Electronic address:
Purpose: Responsive neurostimulation of the centromedian nucleus of the thalamus (CM RNS) is being investigated for treatment of drug-resistant generalized epilepsy with promising results. The aim of this study is to report outcomes of seven patients with pediatric-onset drug-resistant generalized epilepsy, including both genetic generalized epilepsy (GGE) and Lennox-Gastaut syndrome (LGS), who underwent treatment with bilateral CM RNS.
Methods: A retrospective chart review was performed for patients with drug-resistant generalized epilepsy who underwent treatment with bilateral CM RNS at Children's Hospital of Pittsburgh from 2020 to 2022.
Evolution of Hospitalisation Due to Stroke in Italy Before and After the Outbreak of the COVID-19 Epidemic: A Population-Based Study Using Administrative Data.
J Clin Med
January 2025
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90127 Palermo, Italy.
: Stroke is a leading cause of mortality and disability worldwide, ranking as the second most common cause of death and the third in disability-adjusted life-years lost. Ischaemic stroke, which constitutes the majority of cases, poses significant public health and economic challenges. This study evaluates trends in ischaemic stroke hospitalisations in Italy from 2008 to 2022, focusing on differences before and after the COVID-19 pandemic.
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