1,721,071 research outputs found
Epileptic features in Cornelia de Lange syndrome: Case report and literature review
No full textIntroduction: Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. Methods: We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. Results: A large heterogeneity of the epileptic findings in the literature is reported. Conclusion: The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features
Unusual trigeminal autonomic pain heralding hemichorea due to Zoster Sine herpete vasculopathy
No full textBackground Varicella zoster virus primary infection is responsible for chickenpox, whereas secondary infection or reactivation can lead to a variety of clinical scenarios. If latent infection is established in trigeminal ganglion, the reactivation can determine viral migration to cerebral arteries, which causes a cerebral vasculopathy and subsequently an ischemic stroke. Patients Here we report on a child experiencing recurrent episodes of headache mimicking a trigeminal autonomic cephalalgia, in the absence of any skin rash, which were followed by the occurrence of an ipsilateral hemiparesis associated with a choreic movement disorder a month later. Results Magnetic resonance angiography showed evidence of a right-sided infarction of basal ganglia and anterior limb of the internal capsule, corresponding to the vascular territory of the recurrent artery of Heubner, as a consequence of a focal varicella zoster virus arteriopathy. Conclusions We suggest that the recognition of this prodromal manifestation, which can be interpreted as a zoster sine herpete, could provide clinicians an extremely useful time window to start promptly with a prophylactic treatment. © 2013 Elsevier Inc. All rights reserved
Rab Interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes
No full textRab7 is a small GTPase that controls transport to endocytic degradative compartments. Here we report the identification of a novel 45 kDa protein that specifically binds Rab7GTP at its C-terminus. This protein contains a domain comprising two coiled-coil regions typical of myosin-like proteins and is found mainly in the cytosol. We named it RILP (Rab-interacting lysosomal protein) since it can be recruited efficiently on late endosomal and lysosomal membranes by Rab7GTP. RILP-C33 (a truncated form of the protein lacking the N-terminal half) strongly inhibits epidermal growth factor and low-density lipoprotein degradation, and causes dispersion of lysosomes similarly to Rab7 dominant-negative mutants. More importantly, expression of RILP reverses/prevents the effects of Rab7 dominant-negative mutants. All these data are consistent with a model in which RILP represents a downstream effector for Rab7 and both proteins act together in the regulation of late endocytic traffic
Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review
No full textThe epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we performed a literature review using the search terms "epidermal nevus syndrome" and "hemimegalencephaly", including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and facial abnormalities
A method for handlebars ballast calculation in order to reduce vibrations transmissibility in walk behind tractors
Full text linkWalk behind tractors have some advantages over other agricultural machines, such as the cheapness and the easy to use, however the driver is exposed to high level of vibrations transmitted from handles to hand-arm system and to shoulders. The vibrations induce discomfort and early fatigue to the operator. In order to control the vibration transmissibility, a ballast mass may be added to the handles. Even if the determination of the appropriate ballast mass is a critical point in the handle design. The aim of this research was to study the influence of the handle mass modification, on the dynamic structure behaviour. Modal frequencies and subsequent transmissibility calculated by using an analytical approach and a finite elements model, were compared. A good agreement between the results obtained by the two methods was found (average percentage difference calculated on natural frequencies equal to 5.8±3.8%). Power tillers are made generally by small or medium-small size manufacturers that have difficulties in dealing with finite element codes or modal analysis techniques. As a consequence, the proposed analytical method could be used to find the optimal ballast mass in a simple and economic way, without experimental tests or complex finite element codes. A specific and very simple software or spreadsheet, developed on the base of the analytical method here discussed, could effectively to help the manufacturers in the handlebar design phase. The choice of the correct elastic mount, the dimensioning of the guide members and the ballast mass could be considerably simplified
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
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
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe 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
Full text linkWe 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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