Vasomotor reactivity, which can be defined as the cerebral vasculature response to hypoxia, is not well known in epilepsy patients. We aimed to evaluate cerebrovascular reserve in idiopathic generalized epilepsy patients using transcranial Doppler ultrasonography (TCD). The study included 20 patients and 20 healthy volunteers. Diagnosis of epilepsy was based on the observation of seizure in the video electroencephalography unit. Cerebrovascular reactivity was evaluated by means of the breath-holding index. Insonation depth and basal velocity were symmetrical and not significantly different between the two groups (p[0.05). The breath-holding index ranged from 0.62 to 4.45 (mean 2.13 +/- 0.83) in the epilepsy patients and 0.57 to 2.55 (mean 1.60 +/- 0.46) in the control group (p\0.05). Breath-holding index values showed that cerebrovascular reserve in epilepsy patients was increased, as compared to healthy individuals. Cerebrovascular reserve was increased in epilepsy patients; this should not be accepted as an abnormality, but might have been the result of an adaptive mechanism that protects the brain from hypoxic challenges due to seizure apnea.
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http://dx.doi.org/10.1007/s00415-009-5428-4 | DOI Listing |
Nord J Psychiatry
January 2025
Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
Purpose: Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental condition that affects approximately 5% of the pediatric population, with increased prevalence among those with type 1 diabetes (T1D). Reports suggest that unrecognized and untreated ADHD impairs T1D control and that ADHD may be underdiagnosed in the Polish population. The International Society for Pediatric and Adolescent Diabetes recommends neurodevelopmental assessments in children with T1D, but specific guidelines on procedures and implementation are lacking.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Epileptology, University Hospital Bonn (UKB), 53127 Bonn, Germany.
In light of the growing interest in the bidirectional relationship between epilepsy and dementia, this review aims to provide an overview of the role of hyperphosphorylated tau (pTau) in cognition in human epilepsy. A literature search identified five relevant studies. All of them examined pTau burden in surgical biopsy specimens from patients with temporal lobe epilepsy.
View Article and Find Full Text PDFJ Clin Med
January 2025
Innovation, Research and Teaching Service (SABES-ASDAA), Teaching Hospital of the Paracelsus Medical Private University (PMU), 39100 Bolzano, Italy.
: This study investigates the potential of artificial intelligence (AI), specifically large language models (LLMs) like ChatGPT, to enhance decision support in diagnosing epilepsy. AI tools can improve diagnostic accuracy, efficiency, and decision-making speed. The aim of this study was to compare the level of agreement in epilepsy diagnosis between human experts (epileptologists) and AI (ChatGPT), using the 2014 International League Against Epilepsy (ILAE) criteria, and to identify potential predictors of diagnostic errors made by ChatGPT.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
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