23 documents found, page 1 of 3

Pedagogia e Tecnologias Digitais. Reconfigurando Saberes: A Educação na Era das...

Can enzyme replacement therapy revert¨iNKT¨cell dysfunction in acid sphingomyel...

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of the enzyme acid sphingomyelinase (ASM), resulting in an abnormal accumulation of sphingomyelin in lysosomes. The abnormal accumulation of sphingomyelin, a crucial cell membrane component, ultimately impairs pulmonary, hepatic, and sometimes neurological functions, with severe forms of the disease being fatal i...

MicroRNAs as potential biomarkers of response to modified Atkins diet in treatm...

Background: Accurate predictors of response to modified Atkins diet (MAD) are needed. MicroRNAs are potential biomarkers in epilepsy. This study aimed to explore the value of circulating miR-146a, miR-155, miR-22, miR-21 and miR-134 levels in predicting response to MAD. Methods: Patients who completed 3 months of MAD were selected from a prospective cohort of adults with DRE followed in a specialized MAD outpat...

Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-...

Pathogenic biallelic variants in POGLUT1 were linked to limb-girdle muscular dystrophy R21 (LGMD R21), a new type of LGMD featuring pelvic and shoulder girdle weakness, variable age of onset, slowly progressive course, and “inside-to-outside” fatty degeneration pattern in muscle magnetic resonance imaging (MRI). We describe a 54-year-old female with an infantile-onset, slowly progressive, pelvicgirdle myopathy,...

Incidence and Predictors of Radiation Retinopathy after I125 Plaque Brachythera...

INTRODUCTION: Plaque brachytherapy is an established modality for the treatment of eligible choroidal melanomas. Radiation retinopathy (RR) is a known complication of brachy- therapy, responsible in part for the loss of vision after treatment. We aim to present the first report on the incidence and the predictors of radiation retinopathy after the treatment of choroidal mela- nomas in the Portuguese Ocular Onco...

Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X...

Objective: 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...

Circulating cell-free DNA methylation mirrors alterations in cerebral patterns ...

Background: DNA methylation profiling of circulating cell-free DNA (cfDNA) has rapidly become a promising strategy for biomarker identification and development. The cell-type-specific nature of DNA methylation patterns and the direct relationship between cfDNA and apoptosis can potentially be used non-invasively to predict local alterations. In addition, direct detection of altered DNA methylation patterns perf...

Epilepsy progression is associated with cumulative DNA methylation changes in i...

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most common focal epilepsy in adults. It is characterized by alarming rates of pharmacoresistance. Epileptogenesis is associated with the occurrence of epigenetic alterations, and the few epigenetic studies carried out in MTLE-HS have mainly focused on the hippocampus. In this study, we obtained the DNA methylation profiles from both the ...

Deportability: a New Paradigm in Brazilian Migration Policy?

Neste artigo, procura-se refletir sobre o texto da Portaria no 666, publicada pelo Ministro da Justiça e Segurança Pública no dia 26 de julho de 2019, no contexto da legislação migratória brasileira. Discute-se que o evidente desacordo da Portaria com os princípios que regem a nova Lei de Migração é uma manifestação da contradição contemporânea entre a concepção clássica da soberania como mo...

Immunogenetic protective factors in Genetic Generalized Epilepsy

Background: 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...