1,720,958 research outputs found
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
Familial Behçet‐like autoinflammatory disease‐3 (AIFBL3), caused by heterozygous mutation in the rela gene: a case report
No full textIntroduction: The autoinflammatory features of Behçet’s disease (BD) and the role of innate immunity dysregulation have been highlighted and BD can be considered as the crossroad of autoinflammatory and autoimmune diseases.
Objectives: We describe the case of a 9-year-old caucasic male, who presented at age 6 y with recurrent episodes of fever, oral ulcers and pain at the limbs, hands, wrists. At the physical examination the child showed functional limitation of flexion and extension movements of the wrists (left > right) and a bilateral mild joint stiffness of the shoulders. He showed a mild delay in the stages of psychomotor development, and a mild hypotrophy of the muscles of the lower limbs.
Methods: The metabolic disease expert excluded metabolic diseases, based on the metabolic diagnostic investigations. Ultrasound documented knees joint effusion in the lateral supra-patellar seat with synovial membrane’s thickening and evident right knee synovial phlogosis, minimal on the left. A Whole body MRI, reported intra joint
fluid effusion in external lateral seat and in sub patellar seat of the left knee. Intraspongious edema of the cuboid of the right foot. The eye examination with slit lamp was normal; HLA-B27, Anti-streptolysin O titer, pharyngeal swab and specific serologies for infectious diseases were negative. Fecal calprotectin was normal. Antinuclear antibodies (ANA) were positive 1:320 with a granular pattern.
Results: The genetic study in NGS for autoinflammatory diseases revealed a heterozygous mutation, defined as VUS, of the RELA gene: c.1537C>G (p.Pro513Ala). Mutations of the RELA gene are associated with a familiar autoinflammatory disease Behçet’s disease (BD)-like type 3, with an autosomal dominant transmission. The Familial Behçet-like autoinflammatory disease-3 (AIFBL3), caused by heterozygous mutation in the RELA gene on chromosome 11q13, is characterized predominantly by chronic mucocutaneous ulceration.
Conclusion: The patient did not yet fulfil the paediatric BD (PEDBD) nor ICBD criteria for the diagnosis of paediatric BD, however it is well described that BD is an evolutionary disease, and clinical manifestations may appear over the years (1-3). Monogenic BD-like conditions are increasingly recognized and to date have been found to predominantly involve loss-of-function variants in TNFAIP3. This case describes a child carrying the RELA gene mutation, with clinical symptoms evoking BD. The RELA gene mutations are conditions related to dysregulated NF-κB activation and need a strict follow-up and a prompt start of treatment, also in patients who do not fulfil the diagnostic criteria for BD
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
MVK E DEFICIT ACCRESCITIVO IN BAMBINA NATA SGA
No full textI pazienti in età evolutiva affetti da Deficit di Mevalonato kinasi (MVK), caratterizzato nelle forme clinicamente più gravi da alterazioni neurologiche, ritardo psicomotorio, mancanza di coordinazione dei movimenti, disturbi visivi, possono sviluppare
un deficit accrescitivo severo, secondario allo stato infiammatorio. Nei pazienti con S. da iper IgD (HIDS) la crescita è, in genere, garantita e, in caso di bassa statura, vanno escluse altre cause. I pazienti con HIDS, per la parzialità del deficit
enzimatico, hanno una clinica più sfumata (febbre ricorrente, linfoadenopatia, dolori addominali, vomito, diarrea, artralgie, cefalea, rash cutanei, ulcere della bocca ed epatosplenomegalia).
Descriviamo il caso di una bambina di 7,5 anni, inviata dal CRR Malattie Metaboliche Rare per ritardo accrescitivo. La paziente è affetta da MVK, la cui diagnosi è stata posta a circa 14 mesi di vita.
La paziente riferisce artralgie ricorrenti, senza episodi febbrili. In atto, pratica terapia con anakinra, ma prossimo allo switch terapeutico con canakinumab. All’anamnesi perinatale: nata a 38,4 settimane di gestazione da parto spontaneo; peso alla
nascita: 2670gr (10°centile), lunghezza alla nascita 43cm (<3°centile), c.c. 31,2 cm (2°centile). Array-CGH negativi. In base a tali dati, la piccola risulta essere nata small for gestational age (SGA) per la lunghezza ed il suo deficit staturale è
attribuibile alla condizione auxologica neonatale, più che alla diagnosi di MVK, in quanto quest’ultima è associata a bassa statura nelle forme clinicamente più gravi. La piccola risulta, pertanto, avviabile alla terapia con GH.
Nonostante il ritardo di crescita possa essere determinato dalla MVK, bisogna porre particolare attenzione alle note anamnestiche, in quanto i pz con HIDS e deficit accrescitivo devono esser studiati per escludere altre cause di bassa
statura patologica che possono aprire orizzonti terapeutici efficaci
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
- …
