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1.
Proc Natl Acad Sci U S A ; 121(23): e2316364121, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38809712

RESUMO

Epilepsies have numerous specific mechanisms. The understanding of neural dynamics leading to seizures is important for disclosing pathological mechanisms and developing therapeutic approaches. We investigated electrographic activities and neural dynamics leading to convulsive seizures in patients and mouse models of Dravet syndrome (DS), a developmental and epileptic encephalopathy in which hypoexcitability of GABAergic neurons is considered to be the main dysfunction. We analyzed EEGs from DS patients carrying a SCN1A pathogenic variant, as well as epidural electrocorticograms, hippocampal local field potentials, and hippocampal single-unit neuronal activities in Scn1a+/- and Scn1aRH/+ DS mice. Strikingly, most seizures had low-voltage-fast onset in both patients and mice, which is thought to be generated by hyperactivity of GABAergic interneurons, the opposite of the main pathological mechanism of DS. Analyzing single-unit recordings, we observed that temporal disorganization of the firing of putative interneurons in the period immediately before the seizure (preictal) precedes the increase of their activity at seizure onset, together with the entire neuronal network. Moreover, we found early signatures of the preictal period in the spectral features of hippocampal and cortical field potential of Scn1a mice and of patients' EEG, which are consistent with the dysfunctions that we observed in single neurons and that allowed seizure prediction. Therefore, the perturbed preictal activity of interneurons leads to their hyperactivity at the onset of generalized seizures, which have low-voltage-fast features that are similar to those observed in other epilepsies and are triggered by hyperactivity of GABAergic neurons. Preictal spectral features may be used as predictive seizure biomarkers.


Assuntos
Epilepsias Mioclônicas , Neurônios GABAérgicos , Hipocampo , Interneurônios , Canal de Sódio Disparado por Voltagem NAV1.1 , Convulsões , Animais , Epilepsias Mioclônicas/fisiopatologia , Epilepsias Mioclônicas/genética , Interneurônios/fisiologia , Interneurônios/metabolismo , Camundongos , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Canal de Sódio Disparado por Voltagem NAV1.1/metabolismo , Convulsões/fisiopatologia , Humanos , Neurônios GABAérgicos/metabolismo , Neurônios GABAérgicos/fisiologia , Masculino , Hipocampo/fisiopatologia , Hipocampo/metabolismo , Feminino , Modelos Animais de Doenças , Eletroencefalografia , Criança
2.
J Clin Med ; 11(20)2022 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-36294368

RESUMO

BACKGROUND: Telemedicine has the potential to revolutionize healthcare. While the development of digital health technologies for the management of patients with cardiovascular diseases has been increasingly reported, applications in vascular surgery have been far less specifically investigated. The aim of this review is to summarize applications related to telemedicine in vascular surgery, highlighting expected benefits, current limits and future directions. METHODS: The MEDLINE database was searched using a combination of keywords to identify studies related to telehealth/telemedicine in three main pathologies, including aortic, peripheral artery and carotid disease. A comprehensive literature review was performed to identify the type of digital application, intended use, expected benefits, strengths and limitations. RESULTS: Telemedicine can improve the management of patients through digital platforms allowing teleconsultation, telemonitoring or telecoaching. Intended use involved remote consultation with a vascular surgeon, applications to enhance education, self-management, follow-up or adherence to treatment or lifestyle changes. CONCLUSION: Telemedicine offers innovative perspectives to improve access to care in distant locations and optimize care through patients' empowerment and personalized follow-up, contributing to the development of precision medicine. Huge efforts remain necessary for its implementation in daily clinical practice and involve ethical, legal, technical, economic and cultural considerations.

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