1,721,032 research outputs found
Gestational diabetes - paradigm lost?
No full textDespite a prodigious number of publications on the subject of gestational diabetes, great uncertainty persists about its significance and how it should be diagnosed. We suggest that the problem lies with concepts introduced over thirty years ago: first that gestational diabetes is a distinct disease requiring ‘diagnosis’ and second that this entity should include all degrees of glucose intolerance in pregnancy, with the presumption of equal risk across the range. We argue that fetal risks clearly differ according to the degree of maternal glycaemia, being greatest for those with previously undiagnosed diabetes and lowest for those with minimally raised blood glucose. In the latter, ‘gestational diabetes’ is primarily a risk factor for macrosomia and hypertension in pregnancy, but probably not the most important: maternal obesity and excessive gestational weight gain are of greater significance. From this perspective, gestational diabetes is a risk factor rather than a disease, and while there are good reasons to reduce the incidence of large babies and hypertension, it is more logical to look at all risk factors involved. The excessive ‘glucocentric’ focus and the quixotic pursuit of perfect diagnostic criteria in much recent research are hindering rather than helping our understandin
Paediatric Robotic Transperitoneal Heminephroureterectomy in Complete Duplicated Systems: Early and Long-Term Outcomes
No full textBackground: We present outcomes for paediatric robotic heminephroureterectomy from a prospective single-surgeon series. Methods: Children who underwent this operation between July 2007 and March 2017 were reviewed from a prospective database. Results: There were 32 heminephroureterectomy (28 upper, 4 lower) for ureterocele (13), reflux (7), ectopic ureter (11), ureteric atresia (1). Co-morbidities (urological anomalies, recurrent infection, previous abdominal scarring) were common. Concomitant non-robotic procedures took place in 50%. Mean console time was 101 ± 30.2 min, hospital stay 29.5 ± 10.3 h. There were no conversions, intraoperative complications, and no remnant moiety function loss. Excision of diseased moiety calyces was complete in 30 (94%), incomplete in 2 (6%) who subsequently developed asymptomatic small marginal cysts. Eleven (34%) had total-ureterectomy, the remaining 21 (66%) were left with a ureteric stump. Postoperatively 3 (9%) females with residual stump (2 ureterocele, 1 bladder neck ectopia) and other urological anomalies underwent surgery (stump excision + reimplant refluxing remnant moiety ureter) for recurrent infection. Conclusion: In children, heminephroureterectomy is well suited to a robotic approach with favourable outcomes in our experience
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24
No full textMandibuloacral dysplasia (MAD) is a rare recessively inherited premature aging disease characterized by skeletal and metabolic anomalies. It is part of the spectrum of diseases called laminopathies and results from mutations in genes regulating the synthesis of the nuclear laminar protein, lamin A. Homozygous or compound heterozygous mutations in the LMNA gene, which encodes both the precursor protein prelamin A and lamin C, are the commonest cause of MAD type A. In a few cases of MAD type B, mutations have been identified in the ZMPSTE24 gene encoding a zinc metalloproteinase important in the post-translational modification of lamin A. Here we describe a new case of MAD resulting from compound heterozygote mutations in ZMPSTE24 (p.N256S/p.Y70fs). The patient had typical skeletal changes of MAD, but in addition a number of unusual skeletal features including neonatal tooth eruption, amorphous calcific deposits, submetaphyseal erosions, vertebral beaking, severe cortical osteoporosis and delayed fracture healing. Treatment with conventional doses of pamidronate improved estimated volumetric bone density in the spine but did not arrest cortical bone loss. We reviewed the literature on cases of MAD associated with proven LMNA and ZMPSTE24 mutations and found that the unusual features described above were all substantially more prevalent in patients with mutations in ZMPSTE24 than in those with LMNA mutations. We conclude that MAD associated with ZMPSTE24 mutations has a more severe phenotype than that associated with LMNA mutations--probably reflecting the greater retention of unprocessed farnesylated prelamin A in the nucleus, which is toxic to cells
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
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