1,721,396 research outputs found
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Epidemiology of myotonic dystrophy in the molecular era: Implications for clinical trials and association studies
No full textIt is generally accepted that myotonic dystrophy (DM) as a whole is the most common type of muscular dystrophy among adult Caucasians. However, quite surprisingly, epidemiological studies on DM have been scarce, often incomplete and almost exclusively focused on myotonic dystrophy type 1 (DM1). Recent prevalence estimates of molecularly defined DM1 vary between 0.43 and 158 per 100,000 in different populations. Such a wide spanning range is the result of a very low prevalence rate among East-Asians as opposed to exceptionally high rates, due to founder effects, encountered in some inbred populations of European origin. However, prevalence rates among most Caucasian populations lie in between those extremes, whereas this disease is virtually absent in other ethnic groups. Such an uneven distribution of DM1 between distinct populations has no parallels in other muscular dystrophies. It can be explained by the fact that Caucasians more frequently harbor normal alleles at the high end of the CTG repeat size range within the Dmpk gene. These pre-mutated alleles, being highly unstable, represent a pool from which, after further expansion, new pathogenic DM1 mutations arise. The ethnic distribution of DM2 is even more selective, being exclusive, with a single exception, of Caucasian populations. Due to its recent characterization and difficulty in clinical and molecular diagnosis, there are only a few prevalence studies of DM2, indicating a minimum prevalence of 1/100,000. However, in some geographic areas, DM2 mutation may be as frequent as DM1. The ethnic distribution of DM1 and DM2 has suggested that the causative mutations may have arisen in Eurasian populations after their migration from Africa. A possible development of prevalence studies in the general population is the creation of disease registries that will allow to design studies on natural history of disease and to enroll representative patient cohorts for clinical trials. An additional utilization of a DM patient registry may be that of matching information with other disease registries for association studies, as recently proposed for DM and some types of cancer
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
The NADPH-diaphorase-containing system in the brain of the budgerigar (<i>Melopsittacus undulatus</i>)
No full textIn the present investigation we studied the presence and distribution of histochemically detected neuronal NADPH-diaphorase (ND) in the brain of the budgerigar, Melopsittacus undulatus. Positive neurons are widely distributed throughout the central nervous system. ND-containing neurons are present in the telencephalon and the paleostriatal-parolfactory lobe complex. Positive cells were observed also in the neostriatum, including the main auditory area (field L), in several nuclei of the archistriatum and in the hyperstriatum (accessory, dorsal, and ventral). In the diencephalon, positive neurons were present both in the lateral hypothalamic and periventricular areas, and in a segregate area at the confluence of the anterior commissure and the lateral prosencephalic bundle. A group of positive perikarya was located lateral to the dorsal part of the IIIrd ventricle, and continued laterally into the thalamus. Weakly stained neurons were observed in the thalamic dorsomedial posterior nucleus. In the mesencephalon, ND-containing neurons were scattered in the reticular formation (pars lateralis and pars medialis) and in the optic tecta. A large population of positive neurons was observed in the substantia nigra, the ventral area of Tsai and the nucleus interpeduncularis. Positive neurons extended through the tegmental nuclei to the locus coeruleus. In the cerebellum, the granular neurons were weakly stained and the internal cerebellar nuclei were surrounded by a wide network of positive fibers. In the medulla the number of positive cells was highly reduced, but stained neurons were observed in the cochlear as well in the vestibular nuclei. The data here presented suggest that the distribution of ND-containing neurons in the brain of the budgerigar is different from those of the chicken and quail. The locations of positive neurons suggest also a possible involvement in sound perception and production pathways, and visual perception
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