1,720,972 research outputs found

    Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

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    A 15-year-old boy presented with a history of an early-onset spastic paraparesis that progressed toward a severe quadriparesis (video on the Neurology (R) Web site at www.neurology.org), hypokinesia and bradykinesia, dysphagia, dysarthria, and hypomimia. Delayed motor evoked potentials and corticobulbar tract signal abnormality on brain MRI (figure) suggested corticospinal tract involvement. Cognitive functioning was preserved (Leiter-R IQ 86). ALS2 gene sequencing detected a homozygous c.2992C>T (p.R998X) substitution in exon 18, and confirmed the diagnosis of infantile ascending hereditary spastic paralysis (IAHSP).(1</SUP

    PERINATAL OUTCOME AND PSYCHOMOTOR DEVELOPMENT IN SPONTANEOUS VERSUS ASSISTED CONCEPTION MULTIPLE BIRTHS: A 12-MONTH FOLLOW-UP

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    Brief Introduction: In the last years, a strong increase in Assisted Reproductive Technology (ART) procedures was registered in Italy. Several medical studies performed in Europe demonstrate that most of the children conceived after ART are normal; nevertheless, there is an increasing evidence that ART-conceived children are at higher risk of poor perinatal outcome. Furthermore, compared to women who conceive naturally, those who undergo ART procedure are more likely to deliver multiple-birth infants, which are associated with more complications compared with natural singleton pregnancies. Then, it is important to follow up these children, evaluating whether they have elevated developmental risks compared to naturally conceived children to address them to the best therapeutic intervention as soon as possible.Materials & Methods: This is a 12-month follow-up study, which has been conducted on all twins and triplets delivered between 2010 and 2013, who arrived to our servi

    AEDS EFFICACY IN THE DRAVET SYNDROME: A CROSS-SECTIONAL STUDY

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    Purpose: Dravet syndrome (DS) is a rare epilepsy with seizures’ onset during the first year of life. SCN1A gene abnormalities are detected in about 80% of patients. We aimed to evaluate the efficacy of AEDs in a large series of this pharmacoresistant epilepsy. Method: This is a cross-sectional study on all our patients with DS and SCN1A mutations who had a visit within 2010–2013. We included 54 patients (32 M and 22 F), aged from 2 to 23 years. We reviewed the characteristics of seizures (age of onset, type, duration, frequency and day/night prevalence) in relation to the AEDs used and patient0 s age. Results: Only 5 patients (9%) were seizure free for more than 1 year. Seizures were mainly fever sensitive. In the oldest patients (>10y) compared to youngers (6–10 years), seizures were most often tonic-clonic (86% vs. 36% in each group respectively), shorter (<1 min in 55% vs. 1– 5 min in 64%), sleep-related (55% vs. 36%), and rather more frequent (weekly in 55% vs. monthly in 71%). Fourty patients (74%) received a tritherapy (VPA, STP, CLB), associated with another AED in 30 (74%) of them (TPM, LEV, ZNG, CZP, ketogenic diet, bromide, canabidiol). Convulsive status epilepticus (SE) disappeared in 48% of patients after the introduction of STP. However, 5 children (9%) still experienced SE after 6 years and one after 11 years, mainly in the context of fever. Conclusion: Despite the decrease of status epileptics and long lasting seizures with tritherapy (STP, VPA, CLB), <10% of patients are seizure free and half remain with weekly seizures up to adulthood. These preliminary data suggest that there is still a need for developing and evaluating new AEDs in DS

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The 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

    Variations on the Author

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    “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

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    We 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

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    We 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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