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The variability of Pompeʹs disease : a clinical, biochemical and genetic study of glycogen storage disease type 2, or acid maltase deficiency
Get PDFPompe's disease is an autosomal recessive metabolic disorder, characterized
by storage of glycogen in organs and tissues, and associated with deficiency
of the lysosomal enzyme acid maltase (acid a -I, 4-glucosidase, E. C.
3 .2.1.20). Synonyms for Pompe's disease are "glycogen storage disease
type 2" and "acid maltase deficiency". Several clinical variants have
become known. In this thesis a generalized form and a muscular form are
distinguished.
The generalized form is a progressive disease of infancy. It is characterized
by a failure to thrive, cardiorespiratory difficulties and weakness with
hypotonia, and leads to death within the first two years of life. The
muscular form may occur in childhood or even in adults. It causes a slowly
progressive myopathy which is ultimately fatal, usually because of respiratory
insufficiency. Despite the wide variability in clinical manifestations,
one and the same enzyme, lysosomal acid maltase, is deficient in both
forms.
The present study was prompted by two circumstances. The first was
an exceptional combination of both clinical forms in one family: an infant
suffered from the generalized form and her grandfather form the muscular
form. The second reason was that data of 20 patients with this rare disorder
(seven with the generalized form, and 13 with the muscular form) were
available for study. This series consisted of patients known to the pediatrician
Fernandes and the biochemist Koster in Rotterdam, both of whom have
a special interest in the field of the glycogenoses, and of patients diagnosed
by the neurologists Bethlem (Amsterdam), Busch (Rotterdam) and J ennekens
Utrecht
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
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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