1,720,968 research outputs found
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature
No full textA new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430kb critical region including five genes. Here we report on the first adult patient aged 35 years with moderate intellectual disability, psychomotor delay, facial dysmorphisms, cryptorchidism and cardiac anomalies, who carries two close microduplications at 7p22.1 of about 900 and 150kb, respectively. The proximal smaller duplication includes three coding genes and maps outside the minimal described overlapping duplicated region, while the larger one represents the smallest 7p22.1 microduplication reported so far, as it encompasses the entire minimal region with only four additional genes. We compare the phenotype of our patient with that of the few reported cases and discuss on candidate genes in order to enhance the knowledge on genotype-phenotype correlation in 7p22.1 duplication syndrome
Complex rearrangement involving 9p deletion and duplication in a syndromic patient : Genotype/phenotype correlation and review of the literature
Full text linkWe describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3Mb terminal deletion associated with the inverted duplication of the adjacent 21,5Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slanting palpebral fissures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes
Fetal cell microchimerism in papillary thyroid cancer : a possibile role in tumor demage and tissue repair
No full textFetal cells enter the maternal circulation during pregnancy and can persist in the maternal blood or tissues for decades, creating a physiological microchimerism. Since papillary thyroid cancer (PTC) is more frequent in female gender and it is the second more frequent tumor during pregnancy, the role of persisting microchimeric cells has been investigated. Tumour tissue specimens were obtained from 62 women with PTC, 41 of whom had at least one male child before the diagnosis of PTC. Male cells were identified by PCR ELISA studies on a male specific gene, the sex-determining region Y (SRY) and were further characterized by FISH. Male DNA was detected in the pathological tissue of the 17% of women who had a male pregnancy before the diagnosis. By FISH analyses, the total number of microchimeric male cells was significantly higher in neoplastic tissues than in normal sections. By immunoFISH, a technique combining FISH and immunohystochemistry in the same section, male cells expressing thyroglobulin were found in tumor and normal tissues, while male microchimeric cells stained with the CD45 common leukocyte antigen were detected only in pathological sections. Microchimeric cells negative for both markers were detected in tumour and in normal tissues, but they were significantly more frequent in tumoral samples.
In conclusion, the present study shows for the first time the presence of fetal cell microchimerism in women affected with PTC. CD45+ male cells found in the neoplastic tissues might be committed to destroy the tumoral cells, while Tg+ cells could have a repair function. Finally, microchimeric cells negative either for CD45 and for Tg could have staminal properties able to transdifferentiate in different cellular types. The whole of the results obtained suggests a protective role of microchimerism in thyroid cancer, though a possible role in carcinogenesis of persistent microchimeric cells cannot be excluded
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
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