1,720,955 research outputs found
Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis
No full textContext Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations
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
Evaluation of Tracheostomy Patients in Our Pediatric Intensive Care Unit: A Single-Center Study
No full textObjectives: A tracheostomy is a surgical procedure that can be performed on critically ill patients of all ages in intensive care units as indicated, and its use has been increasing in recent years. The most common indications are prolonged mechanical ventilation and upper airway obstruction. This study aimed to examine the indications for tracheostomy, assess the outcomes of patients who underwent the procedure, and identify the factors affecting these outcomes. Material and method: A retrospective analysis of patients who underwent tracheostomy between 2013 and 2019 at Dicle University Faculty of Medicine Hospital Paediatric Intensive Care Unit (PICU). The patients' age, gender, distribution by age, primary diagnosis at admission to the intensive care unit, indication for tracheostomy, presence of additional disease, type of respiratory support before and after tracheostomy, development of complications (perioperative/postoperative), decannulation status, mortality, and discharge status were recorded. Results: A total of 61 patients were enrolled into the study. The average age of the patients was 81.72 months (SD = 17.5), with the youngest being eight months old and the oldest being 203 months old. Of the 61 patients included in the study, 32 (52%) were male and 29 (48%) were female. The majority of patients (32 patients) were in the preschool age group (25-84 months). The primary diagnosis of 27 patients (44.3%) who underwent tracheostomy was neuromuscular diseases, and the most common indication for tracheostomy was prolonged intubation (24 patients, 39.3%). Concomitant chronic diseases were present in 54 patients (88.5%). Patients received mechanical ventilation support for an average of 47.34 days before tracheostomy. Early tracheostomy (0-21 days after initiation of mechanical ventilation) was performed on 14 patients, and late tracheostomy (21 days and later) was performed on 47 patients. Complications developed in nine patients (14.8%) in the perioperative period and in 19 patients (31.1%) in the postoperative period, while no complications developed in 39 patients (63.9%). Six patients (9.8%) were decannulated. Furthermore, 28 patients (45.9%) died. No tracheostomy-related mortality was documented. Conclusion: Despite most patients being of preschool age, having prolonged intubation prior to tracheostomy, and having accompanying chronic illnesses, tracheostomy remains a frequently used procedure in paediatric intensive care units due to its low complication rates, making it an essential intervention that facilitates discharge from paediatric intensive care.Corresponding author: Emine Senka
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
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