9 results on '"Martins da Silva, Antonio"'
Search Results
2. Data-Driven Phenotyping of Central Disorders of Hypersomnolence With Unsupervised Clustering
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Gool, Jari K., Zhang, Zhongxing, Oei, Martijn SSL, Mathias, Stephanie, Dauvilliers, Yves, Mayer, Geert, Plazzi, Giuseppe, del Rio-Villegas, Rafael, Cano, Joan Santamaria, Šonka, Karel, Partinen, Markku, Overeem, Sebastiaan, Peraita-Adrados, Rosa, Heinzer, Raphael, Martins da Silva, Antonio, Högl, Birgit, Wierzbicka, Aleksandra, Heidbreder, Anna, Feketeova, Eva, Manconi, Mauro, Bušková, Jitka, Canellas, Francesca, Bassetti, Claudio L., Barateau, Lucie, Pizza, Fabio, Schmidt, Markus H., Fronczek, Rolf, Khatami, Ramin, Lammers, Gert-Jan, Gool, Jari K., Zhang, Zhongxing, Oei, Martijn SSL, Mathias, Stephanie, Dauvilliers, Yves, Mayer, Geert, Plazzi, Giuseppe, del Rio-Villegas, Rafael, Cano, Joan Santamaria, Šonka, Karel, Partinen, Markku, Overeem, Sebastiaan, Peraita-Adrados, Rosa, Heinzer, Raphael, Martins da Silva, Antonio, Högl, Birgit, Wierzbicka, Aleksandra, Heidbreder, Anna, Feketeova, Eva, Manconi, Mauro, Bušková, Jitka, Canellas, Francesca, Bassetti, Claudio L., Barateau, Lucie, Pizza, Fabio, Schmidt, Markus H., Fronczek, Rolf, Khatami, Ramin, and Lammers, Gert-Jan
- Abstract
BACKGROUND AND OBJECTIVES: Recent studies fueled doubts as to whether all currently defined central disorders of hypersomnolence are stable entities, especially narcolepsy type 2 and idiopathic hypersomnia. New reliable biomarkers are needed and the question arises whether current diagnostic criteria of hypersomnolence disorders should be reassessed. The main aim of this data-driven observational study was to see if data-driven algorithms would segregate narcolepsy type 1 and identify more reliable subgrouping of individuals without cataplexy with new clinical biomarkers.METHODS: We used agglomerative hierarchical clustering, an unsupervised machine learning algorithm, to identify distinct hypersomnolence clusters in the large-scale European Narcolepsy Network database. We included 97 variables, covering all aspects of central hypersomnolence disorders such as symptoms, demographics, objective and subjective sleep measures, and laboratory biomarkers. We specifically focused on subgrouping of patients without cataplexy. The number of clusters was chosen to be the minimal number for which patients without cataplexy were put in distinct groups.RESULTS: We included 1078 unmedicated adolescents and adults. Seven clusters were identified, of which four clusters included predominantly individuals with cataplexy. The two most distinct clusters consisted of 158 and 157 patients respectively, were dominated by those without cataplexy and, amongst other variables, significantly differed in presence of sleep drunkenness, subjective difficulty awakening and weekend-week sleep length difference. Patients formally diagnosed as narcolepsy type 2 and idiopathic hypersomnia were evenly mixed in these two clusters.DISCUSSION: Using a data-driven approach in the largest study on central disorders of hypersomnolence to date, our study identified distinct patient subgroups within the central disorders of hypersomnolence population. Our results contest inclusion of
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- 2022
3. Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis
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Zhang, Zhongxing, Dauvilliers, Yves, Plazzi, Giuseppe, Mayer, Geert, Lammers, Gert Jan, Santamaria, Joan, Partinen, Markku, Overeem, Sebastiaan, Del Rio Villegas, Rafael, Sonka, Karel, Peraita-Adrados, Rosa, Heinzer, Raphaël, Wierzbicka, Aleksandra, Högl, Birgit, Manconi, Mauro, Feketeova, Eva, Martins da Silva, Antonio, Bušková, Jitka, Bassetti, Claudio L.A., Barateau, Lucie, Pizza, Fabio, Antelmi, Elena, Gool, Jari K., Fronczek, Rolf, Gaig, Carles, Khatami, Ramin, Zhang, Zhongxing, Dauvilliers, Yves, Plazzi, Giuseppe, Mayer, Geert, Lammers, Gert Jan, Santamaria, Joan, Partinen, Markku, Overeem, Sebastiaan, Del Rio Villegas, Rafael, Sonka, Karel, Peraita-Adrados, Rosa, Heinzer, Raphaël, Wierzbicka, Aleksandra, Högl, Birgit, Manconi, Mauro, Feketeova, Eva, Martins da Silva, Antonio, Bušková, Jitka, Bassetti, Claudio L.A., Barateau, Lucie, Pizza, Fabio, Antelmi, Elena, Gool, Jari K., Fronczek, Rolf, Gaig, Carles, and Khatami, Ramin
- Abstract
Purpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990-2018) and the factors associated with the delay in Europe.Patients and Methods: We analyzed 580 NT1 patients (male: 325, female: 255) from 12 European countries using the European Narcolepsy Network database. We combined machine learning and linear mixed-effect regression to identify factors associated with the delay.Results: The mean age at EDS onset and diagnosis of our patients was 20.9±11.8 (mean ± standard deviation) and 30.5±14.9 years old, respectively. Their mean and median diagnostic delay was 9.7±11.5 and 5.3 (interquartile range: 1.7-13.2 years) years, respectively. We did not find significant differences in the diagnostic delay over years in either the whole dataset or in individual countries, although the delay showed significant differences in various countries. The number of patients with short (≤2-year) and long (≥13-year) diagnostic delay equally increased over decades, suggesting that subgroups of NT1 patients with variable disease progression may co-exist. Younger age at cataplexy onset, longer interval between EDS and cataplexy onsets, lower cataplexy frequency, shorter duration of irresistible daytime sleep, lower daytime REM sleep propensity, and being female are associated with longer diagnostic delay.Conclusion: Our findings contrast the results of previous studies reporting shorter delay over time which is confounded by calendar year, because they characterized the changes in diagnostic delay over the symptom onset year. Our study indicates that new strategies such as increasing media attention/awareness and developing new biomarkers are needed to better detect
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- 2022
4. Interrater agreement of classification of photoparoxysmal electroencephalographic response
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Beniczky, Sándor, primary, Aurlien, Harald, additional, Franceschetti, Silvana, additional, Martins da Silva, Antonio, additional, Bisulli, Francesca, additional, Bentes, Carla, additional, Canafoglia, Laura, additional, Ferri, Lorenzo, additional, Krýsl, David, additional, Rita Peralta, Ana, additional, Rácz, Attila, additional, Cross, J. Helen, additional, and Arzimanoglou, Alexis, additional
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- 2020
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5. Standardized computer-based organized reporting of EEG:SCORE - Second version
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Beniczky, Sándor, Aurlien, Harald, Brøgger, Jan C., Hirsch, Lawrence J., Schomer, Donald L., Trinka, Eugen, Pressler, Ronit M., Wennberg, Richard, Visser, Gerhard H., Eisermann, Monika, Diehl, Beate, Lesser, Ronald P., Kaplan, Peter W., Nguyen The Tich, Sylvie, Lee, Jong Woo, Martins-da-Silva, Antonio, Stefan, Hermann, Neufeld, Miri, Rubboli, Guido, Fabricius, Martin, Gardella, Elena, Terney, Daniella, Meritam, Pirgit, Eichele, Tom, Asano, Eishi, Cox, Fieke, van Emde Boas, Walter, Mameniskiene, Ruta, Marusic, Petr, Zárubová, Jana, Schmitt, Friedhelm C., Rosén, Ingmar, Fuglsang-Frederiksen, Anders, Ikeda, Akio, MacDonald, David B., Terada, Kiyohito, Ugawa, Yoshikazu, Zhou, Dong, Herman, Susan T., Beniczky, Sándor, Aurlien, Harald, Brøgger, Jan C., Hirsch, Lawrence J., Schomer, Donald L., Trinka, Eugen, Pressler, Ronit M., Wennberg, Richard, Visser, Gerhard H., Eisermann, Monika, Diehl, Beate, Lesser, Ronald P., Kaplan, Peter W., Nguyen The Tich, Sylvie, Lee, Jong Woo, Martins-da-Silva, Antonio, Stefan, Hermann, Neufeld, Miri, Rubboli, Guido, Fabricius, Martin, Gardella, Elena, Terney, Daniella, Meritam, Pirgit, Eichele, Tom, Asano, Eishi, Cox, Fieke, van Emde Boas, Walter, Mameniskiene, Ruta, Marusic, Petr, Zárubová, Jana, Schmitt, Friedhelm C., Rosén, Ingmar, Fuglsang-Frederiksen, Anders, Ikeda, Akio, MacDonald, David B., Terada, Kiyohito, Ugawa, Yoshikazu, Zhou, Dong, and Herman, Susan T.
- Abstract
Standardized terminology for computer-based assessment and reporting of EEG has been previously developed in Europe. The International Federation of Clinical Neurophysiology established a taskforce in 2013 to develop this further, and to reach international consensus. This work resulted in the second, revised version of SCORE (Standardized Computer-based Organized Reporting of EEG), which is presented in this paper. The revised terminology was implemented in a software package (SCORE EEG), which was tested in clinical practice on 12,160 EEG recordings. Standardized terms implemented in SCORE are used to report the features of clinical relevance, extracted while assessing the EEGs. Selection of the terms is context sensitive: initial choices determine the subsequently presented sets of additional choices. This process automatically generates a report and feeds these features into a database. In the end, the diagnostic significance is scored, using a standardized list of terms. SCORE has specific modules for scoring seizures (including seizure semiology and ictal EEG patterns), neonatal recordings (including features specific for this age group), and for Critical Care EEG Terminology. SCORE is a useful clinical tool, with potential impact on clinical care, quality assurance, data-sharing, research and education.
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- 2017
6. The European Narcolepsy Network (EU-NN) database
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Khatami, Ramin, Luca, Gianina, Baumann, Christian R, Bassetti, Claudio L, Bruni, Oliviero, Canellas, Francesca, Dauvilliers, Yves, Del Rio-Villegas, Rafael, Feketeova, Eva, Ferri, Raffaele, Geisler, Peter, Högl, Birgit, Jennum, Poul, Kornum, Birgitte R, Lecendreux, Michel, Martins-da-Silva, Antonio, Mathis, Johannes, Mayer, Geert, Paiva, Teresa, Partinen, Markku, Peraita Adrados, Rosa, Plazzi, Guiseppe, Santamaria, Joan, Sonka, Karel, Riha, Renata, Tafti, Mehdi, Wierzbicka, Aleksandra, Young, Peter, Lammers, Gert Jan, Overeem, Sebastiaan, Khatami, Ramin, Luca, Gianina, Baumann, Christian R, Bassetti, Claudio L, Bruni, Oliviero, Canellas, Francesca, Dauvilliers, Yves, Del Rio-Villegas, Rafael, Feketeova, Eva, Ferri, Raffaele, Geisler, Peter, Högl, Birgit, Jennum, Poul, Kornum, Birgitte R, Lecendreux, Michel, Martins-da-Silva, Antonio, Mathis, Johannes, Mayer, Geert, Paiva, Teresa, Partinen, Markku, Peraita Adrados, Rosa, Plazzi, Guiseppe, Santamaria, Joan, Sonka, Karel, Riha, Renata, Tafti, Mehdi, Wierzbicka, Aleksandra, Young, Peter, Lammers, Gert Jan, and Overeem, Sebastiaan
- Abstract
Narcolepsy with cataplexy is a rare disease with an estimated prevalence of 0.02% in European populations. Narcolepsy shares many features of rare disorders, in particular the lack of awareness of the disease with serious consequences for healthcare supply. Similar to other rare diseases, only a few European countries have registered narcolepsy cases in databases of the International Classification of Diseases or in registries of the European health authorities. A promising approach to identify disease-specific adverse health effects and needs in healthcare delivery in the field of rare diseases is to establish a distributed expert network. A first and important step is to create a database that allows collection, storage and dissemination of data on narcolepsy in a comprehensive and systematic way. Here, the first prospective web-based European narcolepsy database hosted by the European Narcolepsy Network is introduced. The database structure, standardization of data acquisition and quality control procedures are described, and an overview provided of the first 1079 patients from 18 European specialized centres. Due to its standardization this continuously increasing data pool is most promising to provide a better insight into many unsolved aspects of narcolepsy and related disorders, including clear phenotype characterization of subtypes of narcolepsy, more precise epidemiological data and knowledge on the natural history of narcolepsy, expectations about treatment effects, identification of post-marketing medication side-effects, and will contribute to improve clinical trial designs and provide facilities to further develop phase III trials.
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- 2016
7. Methodology of photic stimulation revisited: Updated European algorithm for visual stimulation in the EEG laboratory
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Kasteleijn-Nolst Trenité, Dorothée, primary, Rubboli, Guido, additional, Hirsch, Edouard, additional, Martins da Silva, Antonio, additional, Seri, Stefano, additional, Wilkins, Arnold, additional, Parra, Jaime, additional, Covanis, Athanasios, additional, Elia, Maurizio, additional, Capovilla, Giuseppe, additional, Stephani, Ulrich, additional, and Harding, Graham, additional
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- 2011
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8. Methodology of photic stimulation revisited: Updated European algorithm for visual stimulation in the EEG laboratory.
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Kasteleijn-Nolst Trenité, Dorothée, Rubboli, Guido, Hirsch, Edouard, Martins da Silva, Antonio, Seri, Stefano, Wilkins, Arnold, Parra, Jaime, Covanis, Athanasios, Elia, Maurizio, Capovilla, Giuseppe, Stephani, Ulrich, and Harding, Graham
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ELECTROENCEPHALOGRAPHY ,VISUAL evoked response ,STANDARDIZATION ,PHOTOSENSITIVITY disorders ,PEOPLE with epilepsy ,GUIDELINES - Abstract
Summary Intermittent photic stimulation (IPS) is a common procedure performed in the electroencephalography (EEG) laboratory in children and adults to detect abnormal epileptogenic sensitivity to flickering light (i.e., photosensitivity). In practice, substantial variability in outcome is anecdotally found due to the many different methods used per laboratory and country. We believe that standardization of procedure, based on scientific and clinical data, should permit reproducible identification and quantification of photosensitivity. We hope that the use of our new algorithm will help in standardizing the IPS procedure, which in turn may more clearly identify and assist monitoring of patients with epilepsy and photosensitivity. Our algorithm goes far beyond that published in 1999 ( Epilepsia, 1999a, 40, 75; Neurophysiol Clin, 1999b, 29, 318): it has substantially increased content, detailing technical and logistical aspects of IPS testing and the rationale for many of the steps in the IPS procedure. Furthermore, our latest algorithm incorporates the consensus of repeated scientific meetings of European experts in this field over a period of 6 years with feedback from general neurologists and epileptologists to improve its validity and utility. Accordingly, our European group has provided herein updated algorithms for two different levels of methodology: (1) requirements for defining photosensitivity in patients and in family members of known photosensitive patients and (2) requirements for tailored studies in patients with a clear history of visually induced seizures or complaints, and in those already known to be photosensitive. [ABSTRACT FROM AUTHOR]
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- 2012
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9. On the personal facets of quality of life in chronic neurological disorders.
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Giovagnoli AR, Martins da Silva A, Federico A, and Cornelio F
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- Adult, Affect, Brain Ischemia psychology, Brain Neoplasms psychology, Chronic Disease psychology, Cognition, Epilepsy psychology, Factor Analysis, Statistical, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Psychological Tests, Regression Analysis, Reproducibility of Results, Spirituality, Brain Diseases psychology, Quality of Life
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Quality of life (QOL) is an important clinical endpoint, but it remarkably varies in patients with similar neurological conditions. This study explored the role of spirituality (i.e., the complex of personal transcendence, connectedness, purpose, and values) in determining QOL in chronic neurological disorders.~Seventy-two patients with epilepsy, brain tumours or ischemic or immune-mediate brain damage compiled inventories for QOL (WHOQOL 100), spirituality (Spiritual, Religious and Personal Beliefs, WHOSRPB), depression (Beck Depression Inventory, BDI), anxiety (State-Trait Anxiety Inventory, STAI), and cognitive self-efficacy (Multiple Ability Self-Report Questionnaire, MASQ) and underwent neuropsychological testing. With respect to 45 healthy controls, the patients reported worse QOL, with no difference between the four patient subgroups. Factor analyses of the WHOSRPB, STAI, and BDI scores and of the MASQ and neuropsychological test scores yielded four (Personal Meaning, Inner Energy, Awe and Openness, Mood) and three factors (Control Functions, Cognition, Memory), respectively. Mood, Cognition, Inner Energy, schooling, and subjective health status correlated with the WHOQOL scores, but at regression analysis only Mood and Inner Energy predicted QOL. This suggests that spirituality, as a personal dimension distinct from mood, contributes to determine QOL. A multidimensional assessment of QOL, including personal facets, may explain differences between patients with chronic neurological disorders.
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- 2009
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