1,721,037 research outputs found
Ruolo dei polimorfismi del recettore della vitamina D nella suscettibilità genetica alla psoriasi
Full text linkRetesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies
No full textWe read with great interest the study by Moran and colleagues, entitled ‘‘Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12- gene panel’’ recently published in this journal [1]. Using next generation sequencing (NGS) technologies, the authors re-assessed women affected by breast cancer who had previously tested negative for mutations in the large BRCA1 exon 11 and BRCA2 exons 10–11 by the protein truncation test (PTT). Specifically, they evaluated the prevalence of mutations in 12 breast cancer susceptibility genes, including BRCA1 and BRCA2, in 190 female breast
cancer cases with a strong family history of breast cancer. Six mutations were detected in BRCA1 and BRCA2; in particular, one of these mutations (c.893_899delCAGTTGTinsTACTTCAG, p.Thr298fs) was detected in BRCA2 exon 10, previously screened by PTT. Overall, six women who had previously received a negative test result for BRCA1 and BRCA2 mutations using the PTT were found to carry pathogenic mutations in these two highpenetrance
genes
Face in collision: emotional looming stimuli modulate interpersonal space across development and gender
Full text linkBasic visual functions have evolved to allow for rapid detection of dynamic stimuli in our surrounding environment. In particular, looming stimuli are of relevance because they are expected to enter the individual’s interpersonal space representing a potential threat. Different studies showed that emotions can modulate the perception of visual looming stimuli and the borders of interpersonal space, defined as the area around the body that individuals maintain between themselves and others during social interactions. Here, we investigated how emotions modulate the perception and the physiological correlates of interpersonal space and whether such indexes change across age and gender. Children and adults were asked to quickly react to emotional looming stimuli while measuring their skin conductance response (SCR). We found that emotional looming stimuli shrink the borders of interpersonal space of males more than females, and that this pattern does not change with age. In addition, adults reacted faster to angry than happy and neutral faces, which is in line with the notion that threatening stimuli capture attention more quickly than other types of emotional stimuli. However, this was not observed in children, suggesting that experience with negative stimuli, rather than the evolutionary meaning they possess, may influence the boundaries of interpersonal space. Overall, our study suggests that interpersonal space is modulated by emotions, but this appears to be modulated by gender and age: while behavioural responses to emotional looming stimuli refine with age, physiological responses are adult-like as early as 5 years of age
Breast cancer: not only a "woman's" diseases
No full textMale breast cancer (MBC) is a rare disease compared with female breast cancer (FBC), but its incidence is increasing. Because of its rarity, MBC is often compared with FBC and our current understanding regarding MBC biology, natural history and treatment strategies has been largely extrapolated from the female counterpart.
Based on age-frequency distribution, age-specific incidence rate patterns and prognostic factors profiles, MBC is considered similar to late-onset post-menopausal estrogen/progesterone receptors (ER/PR)-positive FBC. This suggests that common BC risk factors may affect both genders. Indeed, similar to BC in women, MBC is likely to be caused by the concurrent effects of different risk factors, including hormonal, environmental and genetic risk factors. However, clinical and pathological characteristics of MBC do not exactly overlap FBC. Compared with women, BC occurs in men later in life, is mostly represented by invasive ductal carcinoma with higher stage, lower grade and ER/PR expression.
Although rare, MBC remains a substantial cause for morbidity and mortality in men, probably because of its occurrence in advanced age and delayed diagnosis. MBC treatment generally follows the same indications as post-menopausal FBC. BC mortality and survival rates have improved significantly over time for both male and female BC, but the improvement for male is smaller if compared to female patients, thus suggesting a delay or non-appropriate utilization of adjuvant therapy.
Overall, much still needs to be learned about MBC and, because of its rarity, the main effort is to develop national and international consortia for moving forward in our understanding of MBC
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
- …
