1,721,036 research outputs found
Progressive myoclonic encephalopathies: From phenomenology to genes and proteins
No full textThe progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalized epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. PMEs are characterized by myoclonic seizures, tonic–clonic seizures, and progressive neurological deterioration, typically with cerebellar signs and dementia; other signs however can be present especially during the progression of disease. Recent advances in molecular genetics have helped to achieve better understanding of the different disorders that cause PME. There are different forms of PME that have been more accurately defined with recent advances in genetic studies. In particular, especially in adult age, the most recognized forms included Unverricht–Lundborg disease (related to CSTB gene mutation formerly indicated as EPM1A), Lafora disease (related to EPM2A and EPM2B mutation), myoclonic epilepsy with ragged red fibers (a mitochondrial disease often related to MTTK mutation), neuronal ceroidolipofuscinoses (CLN2, CLN3, CLN5, CLN6), sialidoses (that include different forms secondary to neuraminidase deficiency) and dentatorubral-pallidoluysian atrophy (related to an abnormal CAG repeat). The paper is aimed to review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options
EEG Markers of Treatment Resistance in Idiopathic Generalized Epilepsy: From Standard EEG Findings to Advanced Signal Analysis
Full text linkIdiopathic generalized epilepsy (IGE) represents a common form of epilepsy in both adult and pediatric epilepsy units. Although IGE has been long considered a relatively benign epilepsy syndrome, a remarkable proportion of patients could be refractory to treatment. While some clinical prognostic factors have been largely validated among IGE patients, the impact of routine electroencephalography (EEG) findings in predicting drug resistance is still controversial and a growing number of authors highlighted the potential importance of capturing the sleep state in this setting. In addition, the development of advanced computational techniques to analyze EEG data has opened new opportunities in the identification of reliable and reproducible biomarkers of drug resistance in IGE patients. In this manuscript, we summarize the EEG findings associated with treatment resistance in IGE by reviewing the results of studies considering standard EEGs, 24-h EEG recordings, and resting-state protocols. We discuss the role of 24-h EEG recordings in assessing seizure recurrence in light of the potential prognostic relevance of generalized fast discharges occurring during sleep. In addition, we highlight new and promising biomarkers as identified by advanced EEG analysis, including hypothesis-driven functional connectivity measures of background activity and data-driven quantitative findings revealed by machine learning approaches. Finally, we thoroughly discuss the methodological limitations observed in existing studies and briefly outline future directions to identify reliable and replicable EEG biomarkers in IGE patients
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
To Buy or Rent to Buy? Appraisal Questions
No full textThe paper aims to discuss the new typology of the Rent to Buy contract from an appraisal perspective. Starting from the analysis of the contractual typologies alternative to the traditional property sale, the paper analyzes the Rent to Buy formula, with particular reference to the definition of the Discounted Cash Flow terms. The study prefigures the use of the real estate market cycles when defining the terms of the contract, in order to increase confidence in the use of this interesting contractual form
Optimal Design in Energy Retrofit Interventions on Building Stocks: A Decision Support System
No full textDuring the last years, a growing interest has pivoted around strategies and methodologies for energy efficiency in buildings. Nevertheless, the attention has always been primarily directed to single properties, while the scientific research still lacks in solutions for building portfolios. Assets owners, instead, would require reliable decision-support systems in order to implement the most effective retrofit solutions. Hence, this study intends to elaborate a process to identify the optimal allocation of financial resources for energy enhancements in large building portfolios. Some novelties characterize this research. First, the approach developed covers each aspect of energy retrofits, from energy consumption assessment to on-site construction and management. Second, the level of detail requested is not excessively burdensome, ensuring good reliability. Third, the approach is interdisciplinary, connecting energy forecast techniques, economic analyses with operational research. The method developed has been implemented on a portfolio of 25 buildings in North Italy for testing and validation. It was possible to compare several design alternatives and reach for the best outcome, which demonstrated how this decision support system could be successfully used for real applications
Natural evolution from idiopathic photosensitive occipital lobe epilepsy to idiopathic generalized epilepsy in an untreated young patient
No full textIdiopathic photosensitive occipital lobe epilepsy (IPOE) is an idiopathic localization-related epilepsy characterized by age-related onset, specific mode of precipitation, occipital photic-induced seizures frequently consisting of visual symptoms and good prognosis. This uncommon epilepsy, which usually starts in childhood or adolescence, has rarely been observed in families in which idiopathic generalized epilepsy also affects other members. We describe a nuclear family in which the proband showed electro-clinical features of idiopathic photosensitive occipital lobe epilepsy in childhood, which subsequently evolved into absences and a single generalized tonico-clonic seizure in early adolescence. His mother had features suggestive of juvenile myoclonic epilepsy. This case illustrates a continuum between focal and generalized entities in the spectrum of the so-called idiopathic (genetically determined) epileptic syndromes. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved
Ambroxol-Induced Focal Epileptic Seizure
No full textIt is well known that in epileptic patients some compounds and different drugs used for the treatment of comorbidities can facilitate or provoke seizures, this evidence regarding a wide spectrum of pharmacological categories. The potential facilitating factors usually include direct toxic effects or pharmacological interactions of either active ingredients or excipients. We report the case of a patient with drug-resistant epilepsy who experienced focal epileptic seizures, easily and constantly reproducible, after each administration of a cough syrup. This is, to our knowledge, the first electroencephalogram-documented case of focal epileptic seizures induced by cough syrup containing ambroxol as active ingredient
Anti-LGI1 encephalitis: A family affair
Full text linkHere we describe the second ever-reported case of familial anti-leucine-rich glioma-inactivated protein 1 (LGI1) limbic encephalitis (LE). Two elderly Caucasian sisters presented with psychiatric symptoms and cognitive impairment, followed by faciobrachial dystonic seizures. Anti-LGI1 antibodies were detected in their serum. Considering they had been living in distant regions for decades, environmental factors could be ruled out. Human leukocyte antigen (HLA) genotyping revealed that both carried HLA-DRB1*07, found in 90% of anti-LGI1 en-cephalitis patients, HLA-DQA1*02:01 and HLA-DQB1*03:03, commonly associated with DRB1*07:01. Consid-ering the exceptional nature of familial cases, as-yet-unknown genetic contributors other than HLA might play a role in our siblings
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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