1,721,303 research outputs found
Do mutations in SCN1B cause Dravet syndrome?
No full textAvailable online 20 November 2012Abstract not availableYoung Ok Kim, Leanne Dibbens, Carla Marini, Arvid Suls, Nicole Chemaly, Davide Mei, Jacinta M. McMahon, Xenia Iona, Samuel F. Berkovic, Peter De Jonghe, Renzo Guerrini, Rima Nabbout, Ingrid E. Scheffe
Syndrome de Sturge-Weber : optimisation du diagnostic précoce de l'angiome pial et recherche de facteurs prédictifs électroencéphalographiques du développement de l'épilepsie
No full textPurpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma and a leptomeningeal angioma. Early diagnosis is thought to be complicated by the low sensitivity of MRI in neonates. Epilepsy occurs in more than 75% of affected children at the median age of 6 months and is associated with a poor neurological prognosis. Objectives: in a first study, we assessed the diagnostic accuracy of a routine MRI protocol in detecting of the leptomeningeal angioma in neonates with a facial port-wine stain. In a second study, we aimed to identify predictive markers of epilepsy on electroencephalogram (EEG) performed prior to the onset of seizures in children with SWS. Methods: in the first study, direct and indirect signs of leptomeningeal angioma were screened on a first MRI performed before 3 months old in children with a facial port-wines stain suspected of SWS and compared with a second MRI after 9 months, considered as the gold standard. In the second study, we described EEG features performed prior to seizures onset in children with a diagnosis of SWS. Results: Thirty children were included in the first study. Thirteen patients had a diagnosis of SWS confirmed by the second MRI. Eleven of them had a leptomeningeal enhancement on the first MRI of whom 10 presented indirect signs. The presence of direct or at least one indirect sign of the leptomeningeal angioma on the first MRI was associated with a sensitivity of 100% and a specificity of 94%. Eleven children were included in the second study. The EEG was performed at the median age of 2,1 months and 6 children developed seizures. Interictal epileptiform abnormalities were exclusively recorded in patients who developed later epilepsy (n=4). Conclusion: all neonates with facial port-wine stain should have a cerebral MRI during the first months of life in search of a leptomeningeal angioma, along with an EEG which could help to identify patients at high risk of epilepsy.Introduction : le syndrome de Sturge-Weber (SSW) est caractérisé par l’association d’un angiome plan du visage, d’un angiome leptoméningé et d’un glaucome. La sensibilité de l'IRM cérébrale pour le diagnostic précoce de l’angiome pial est considérée comme faible dans la littérature. L'épilepsie survient chez plus de 75% de ces enfants à un âge médian de 6 mois. Objectifs : dans une 1ère étude, nous avons évalué la performance diagnostique de l’IRM cérébrale pour la détection de l’angiome pial chez des nouveau-nés avec un angiome plan du visage. Dans une 2ème étude, nous avons cherché des marqueurs prédictifs d’épilepsie sur l'électroencéphalogramme (EEG) d’enfants atteints d’un SSW. Méthodes : dans la 1ère étude, les signes directs et indirects d'angiome leptoméningé étaient recherchés sur une IRM réalisée avant 3 mois chez des enfants avec un angiome plan du visage et confrontés aux résultats d’une IRM réalisée après 9 mois, considérée comme le gold standard. Dans la 2ème étude, nous avons étudié les EEG réalisés avant l'apparition des crises chez des enfants avec un SSW. Résultats : trente enfants ont été inclus dans la 1ère étude. Treize patients ont eu un diagnostic de SSW confirmé sur la deuxième IRM dont 11 avaient un rehaussement leptoméningé visible sur la première IRM cérébrale et 10 avaient des signes indirects associés. La présence du signe direct ou d’au moins un signe indirect d’angiome leptoméningé sur la 1ère IRM était associée à une sensibilité de 100% et une spécificité et 94%. Onze enfants ont été inclus dans la 2ème étude. L'âge médian à l’EEG était de 2,1 mois. Six enfants ont développé des crises durant le suivi. Des anomalies intercritiques ont été enregistrées exclusivement sur les EEG de patients ayant développé une épilepsie (n=4). Conclusion : les nouveau-nés porteurs d’un angiome plan du visage suspect de SSW devraient avoir une IRM cérébrale précocement, ainsi qu’un EEG pouvant permettre d'identifier les patients à haut risque d'épilepsie
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe 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
Ketogenic Diet in Status Epilepticus
No full textAbstract
Refractory status epilepticus (RSE) is associated with a significant risk of death or neurological morbidity. The ketogenic diet (KD) is a dietary therapy that succeeds in controlling seizures in otherwise RSE in children and adult patients. Inflammatory etiologies might be a particular target, but KD has reported efficacy in other etiologies. KD is well tolerated, and the effect is seen within days. Randomized and controlled studies are lacking in this area, and studies are needed to prove the efficacy of KD in RSE and to identify specific indications. This would help to increase its use and to implement it in intensive care units to resolve severe epileptic conditions quickly.</jats:p
Variations on the Author
Get PDF“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
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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