19 documents found, page 1 of 2
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...
Ustekinumab in Real-Life Practice: Experience in 116 Patients with Moderate-To-...
Raposo, Inês; Bettencourt, Andreia; Leite, Luiz; Selores, Manuela; Torres, TiagoIntroduction: Ustekinumab is a monoclonal antibody directed against the p40 subunit common to both IL-12 and IL-23 cytokines. Although the evidence of ustekinumab efficacy and safety in clinical trials is extensively recognized, data on its use in clinical practice is limited. Our objective is to report on the real-life experience of two Portuguese dermatology departments with ustekinumab in patients with moder...
Refractory myasthenia gravis: Characteristics of a portuguese cohort
Santos, Ernestina; Bettencourt, Andreia; Duarte, Sara; Gabriel, Denis; Oliveira, Vanessa; da Silva, Ana Martins; Costa, Paulo Pinho; Lopes, CarlosIntroduction: Some myasthenia gravis (MG) patients are refractory to conventional treatments. Methods: To describe the clinical features of refractory MG (RMG) and explore the association with human leukocyte antigen HLA-DRB1 alleles, a cohort study of 114 consecutive MG patients was performed. Patients were classified as RMG based on predefined criteria. Results: Twenty-two patients were found to have RMG (19....
Effect of Month of Birth on the Risk of Developing Psoriasis
Martins, Ana; Bettencourt, Andreia; Torres, TiagoIntroduction: Psoriasis is an immunemediated dermatosis characterized by chronic inflammation, abnormal proliferation and aberrant differentiation of keratinocytes, hyperplastic blood vessels and infiltration of inflammatory cells. Psoriasis is a multifactorial disease and is influenced by genetics and epigenetic modifications that can be triggered by environmental factors. Climate and sun exposure may affect p...
Biosimilar Agents for Psoriasis Treatment: The Perspective of Portuguese Patients
Azevedo, Alexandra; Bettencourt, Andreia; Selores, Manuela; Torres, TiagoIntroduction: Biosimilars are highly similar copies of previously approved original biologic medicines. Their introduction on the market may yield cost reduction. The aim of this study was to evaluate the perspectives of psoriasis patients on biosimilar medications.Materials and Methods: We conducted a 14 questions survey of psoriasis patients receiving biological therapy and followed-up in a dermatology depart...
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 ...
Vitamina D e autoimunidade na população portuguesa
Bettencourt, Andreia; Marinho, António; Silva, Ana Martins da; Silva, Berta Martins da; Pinho e Costa, PauloA vitamina D é única entre as vitaminas pois trata-se de uma verdadeira hormona, à qual tem sido atribuída grande importância na homeostasia do sistema imune, para lá do seu reconhecido papel no metabolismo fosfocálcico. A ampla expressão do seu recetor (VDR), e os numerosos locais de ligação deste em todo o genoma, dão suporte a essa hipótese. Alguns polimorfismos do gene do VDR têm sido associados com doenças...
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...
HLA and age of onset in myasthenia gravis
Santos, Ernestina; Bettencourt, Andreia; da Silva, Ana Martins; Boleixa, Daniela; Lopes, Dina; Brás, Sandra; Costa, Paulo Pinho E.; Lopes, CarlosThe aetiology of MG is unknown, but both genetic and environmental factors are important. Over the years association of MG with Human Leucocyte Antigens (HLA) has been described in different populations. We investigated a possible association between HLA-DRB1 alleles and age of onset in MG. One hundred and fourteen MG patients (82 females) and 282 control individuals (CP) were studied. Patients were classified ...