1,720,958 research outputs found
Fifteen-minute consultation: The prepubescent gender-diverse child: how to answer parents' questions
Parents and caregivers may seek help with different questions or concerns on how to handle the diverse gender expressions of their children. Sometimes the issue may be evident while seeking medical advice for other concerns. Because of the many uncertainties around this topic, clinicians need to know what to say and what can be done to provide the best possible care for gender-diverse children
Case Report: Somatic Symptoms Veiling Gender Dysphoria in an Adolescent
Background: Somatic symptom disorder is common in children and adolescents; usually, it is an expression of a mental health problem or other conditions that lead to psychosocial impairment and suffering. Among these, in pubertal age, gender dysphoria should be considered.
Case Presentation: We present the case of a 15-year-old girl admitted to the hospital because of a 2-month history of scattered arthralgia and myalgia, headache, and fatigue, with repeated visits to the emergency room. The physical exam was unremarkable, except for step walking and pain. Repeated diagnostic tests were normal, and consecutive psychological interviews disclosed intense suffering due to a gender incongruence. Referral to the hospital gender service was offered and refused by the parents.
Conclusions: In pubertal age, gender dysphoria may be expressed through somatoform symptoms. Diagnosis is challenging to accept for the parents even in the presence of adequate multi-disciplinary hospital services
Disforia di genere e dintorni
L'identità di genere è una dimensione dell'identità sessuale e si riferisce alla persistente concezione personale di sé come maschio o femmina. Lo sviluppo delle identità di genere non è sempre conforme al sesso biologico, quindi anche in tenera età alcuni bambini non si identificano con il genere assegnato alla nascita (varianza di genere). In alcuni casi questa condizione può essere accompagnata da disagio (disforia di genere). I pediatri sono spesso il primo contatto che questi bambini / adolescenti hanno con il sistema sanitario, quindi dovrebbero essere in grado di rispondere alle domande delle famiglie e quando individuano un'eventuale disforia di genere dovrebbero affrontare la questione semplicemente, ricercando gli eventuali problemi psicosociali associati
PMM2-CDG: Phenotype and genotype in four affected family members
Abstract
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations. Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His, while two paternal great-aunts are compound heterozygosity for p.Leu32Arg and p.Thr237Met. The latter association has not been reported before. The most severely affected member had in addition an ALG6 mutation known to exacerbate the phenotype of patients with PMM2-CDG.
Abbreviations
CDG, Congenital disorders of glycosylation; PMM2, phosphomannomutase 2; ALG6, alpha-1,3-glucosyltransferase; CDT, carbohydrate-deficient transferri
Going Beyond Counting First Authors in Author Co-citation Analysis
The 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
“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
We 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
We 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
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