Encontrados 10 documentos, a visualizar página 1 de 1
Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X...
Guerra Leal, Bárbara; Barros-Barbosa, Aurora; Ferreirinha, Fátima; Chaves, João; Rangel, Rui; Santos, Agostinho; Carvalho, CláudiaObjective: ATP-gated ionotropic P2X7 receptors (P2X7R) actively participate in epilepsy and other neurological disorders. Neocortical nerve terminals of patients with Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) express higher P2X7R amounts. Overexpression of P2X7R bolsters ATP signals during seizures resulting in glial cell activation, cytokines production, and GABAergic rundown with unre...
Immunogenetic protective factors in Genetic Generalized Epilepsy
Chaves, João; Martins-Ferreira, Ricardo; Ferreira, Ana Marta; Brás, Sandra; Carvalho, Cláudia; Bettencourt, Andreia; Samões, Raquel; Monteiro, FábioBackground: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors. In this setting, our aim was to...
Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies
Chaves, João; Martins-Ferreira, Ricardo; Carvalho, Cláudia; Bettencourt, Andreia; Brás, Sandra; Chorão, Rui; Freitas, Joel; Samões, Raquel; Lopes, JoãoBackground: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited kno...
Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippo...
Leal, Bárbara; Chaves, João; Carvalho, Cláudia; Bettencourt, Andreia; Brito, Cláudia; Boleixa, Daniela; Freitas, Joel; Brás, Sandra; Lopes, JoãoPurpose: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated ...
Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations
Calejo, Margarida; Vilarinho, Laura; Neiva, Raquel; Botelho, Luís; Ramalheira, João; Taipa, Ricardo; Melo‐Pires, Manuel; Lima, António BastosIntroduction: Polymerase γI (POLG) gene mutations may induce mitochondrial DNA (mtDNA) instability leading to its depletion or multiple deletions1 and causing a wide spectrum of multisystemic disorders. Commonly described phenotypes include AlpersHuttenlocher syndrome, childhood myocerebrohepatopathy, myoclonic epilepsy myopathy and sensory ataxia, mitochondrial recessive ataxia syndrome, sensory ataxia neuropa...
Brain expression of inflammatory mediators in Mesial Temporal Lobe Epilepsy pat...
Leal, Bárbara; Chaves, João; Carvalho, Cláudia; Rangel, Rui; Santos, Agostinho; Bettencourt, Andreia; Lopes, João; Ramalheira, João; Silva, Berta M.Neuroinflammation may be central in epileptogenesis. In this study we analysed inflammatory reaction markers in brain tissue of Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) patients. TLR4, IL-1β and IL-10 gene expression as well as the presence of activated HLA-DR+ microglia was evaluated in 23 patients and 10 cadaveric controls. Inflammation characterized by the presence of HLA-DR+microgl...
Obstructive sleep apnoea syndrome and HLA in the North of Portugal
Silva, Luís; Lopes, João; Ramalheira, João; Cunha, Daniela; Carvalho, Cláudia; Bettencourt, Andreia; Bras, Sandra; Costa, Paulo; Silva, M. Berta[ENG] Introduction. The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA polymorphisms and sleep disorders are confirmed...
Expression of Inflammation-Associated MicroRNAs in Epilepsy
Leal, Bárbara; Carvalho, Cláudia; Chaves, João; Bettencourt, Andreia; Freitas, Joel; Lopes, João; Ramalheira, João; Silva, António M.; Costa, Paulo P.Background: Neuroinflammation appears as an important epileptogenic mechanism. MicroRNAs (miRNA) are small non-coding RNA molecules that function as post-transcriptional regulators of gene expression, controlling different biological process including immune system homeostasis and function. Evidences, both in patients and animal studies, have demonstrated an abnormal brain expression of miR-146a and miR-155 in ...
Usefulness of genetic characterization of narcolepsy and hypersomnia on phenoty...
Martins-da-Silva, António; Lopes, João; Ramalheira, João; Carvalho, Cláudia; Cunha, Daniela; Costa, Paulo P; Silva, M BertaThe determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the autoimmune hypothesis for the origin of narcolepsy. AIM. To assess the usefulness of genetic markers (HLA) ...
Functional and morphologic data fusion for epileptogenic foci localisation
Fernandes, José Maria; Silva, António Martins da; Ramalheira, João; Pereira, Pedro M. Gonçalves; Cunha, João PauloOne of the most important and difficult tasks in Epileptology is the localisation of the epileptogenic areas/focus. This is fundamental to achieve good clinical classification and consequent good pharmacological treatment. If needed, it allows adequate surgical procedure consequently decreasing the number of resistant cases and improving patient’s quality of life. In this work we propose a solution with the obj...