1,720,960 research outputs found
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome
No full textWe report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age
No full textBACKGROUND: Maleness associated with 45,X karyotype is a very rare condition: Male differentiation implicates translocation of Y material on different autosomes (11,15,14,18 are described in literature). Previously, in our Institute of Genetics, a 25-year-old male with 45,X karyotype, was examined: testes and normal external genitalia were present. High resolution analysis of prometaphase chromosomes revealed additional euchromatic matherial on the short arm of one 15 chromosome; after in situ hybridisation with Y-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 translocation. After 20 years, the patient again returned to our center with requests on sexual and fertility potential; he was re-examined, at clinical, genetical, hormonal metabolic level.
METHODS: FISH analyses were performed on metaphase chromosomes. We also performed: standard oral glucose tolerance test (OGTT); basal and dynamic hormones assays; standard semen analysis according to WHO criteria; DEXA.
RESULTS: FISH studies with LSI SRY (Vysis) probe showed positive signal on terminal p arm of chromosome 15; CEP Y (Vysis), and acro p-arm probe (Vysis) signals were both present on the derivative chromosome 15; RP11-75F5 BAC probe (Yq11.21) signal was present between the Y-specific and 15-specific centromeres. The patient had clinical criteria for metabolic syndrome; hypergonadotropinemic hypotestosteronemia was discovered.
DISCUSSION: The interest of this case, other than natural history of such a rare condition, strongly reinforces metabolic role of testosterone and suggest that hypogonadism could play a role in the development of metabolic syndrome in our patient
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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
- …
