1,721,075 research outputs found
A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency
No full textThe Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism
No full textThis article analyzes the pattern of movement disorders in children with primary defects of biogenic amine metabolism emerging during the first 3 year of life. A PubMed search was performed using the keywords monoamine neurotransmitter disorders, congenital defects of biogenic amine metabolism, early onset movement disorders, autosomal dominant guanosine-triphosphate-cyclohydrolase deficiency, autosomal recessive guanosine-tryphosphate-cyclohydrolase deficiency, 6-pyruvoyl-tethrahydropterin synthase deficiency, sepiapterin reductase deficiency, dihydropteridine reductase deficiency, tyrosine hydroxilase deficiency, aromatic l-amino acid decarboxylase deficiency, dopamine transporter deficiency, and vesicular monoamine transporter 2. A personal series of 27 patients affected by these disorders was presented and discussed. Primary defects of biogenic amine metabolism result in a spectrum of movement disorders associated with derangement of postural reaction and global development delay. Movement disorders virtually represent the presentation symptoms in most of these diseases. The prominent early clinical patterns of movement disorders are akinesia (with rigidity or hypotonia) and hyperkinesia (dystonia, myoclonic jerks, and tremor). While some diseases present with a rather stereotyped clinical pattern (i.e.; Aromatic l-amino acid decarboxylase, sepiapterin reductase, and Dopamine transporter deficiencies), others (i.e.; Guanosine-triphosphate-cyclohydrolase, 6-pyruvoyl tetrahydropterin synthase, dihydropteridine reductase, and tyrosine hydroxylase deficiencies) may present with more pleomorphic features. As a general rule, earlier the onset of the disease is, more severe and generalized is the derangement of motor functions. Inherited disorders of monoamine neurotransmitter metabolism include the few idiopathic movement disorders with the possibility of etiological treatments. For these reasons, they should always be considered in the diagnostic work-up of children with early onset movement disorders
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
Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease
No full textPersonality traits differentially predict body dissatisfaction and disordered eating in female and male italian adolescents
No full textPredittori degli aspetti affettivi e percettivi della distorsione dell’immagine corporea in un gruppo di ragazze adolescenti italiane
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