1,721,022 research outputs found
Regional disparities in Italy may have to do with trust and cooperation
No full textThey can't be simply attributed to differences in infrastructure, institutions and economic policies, write Maria Bigoni, Stefania Bortolotti, Marco Casari, Diego Gambetta and Francesca Pancott
Dalla neonata alla madre: diagnosi di distrofia miotonica
No full textLa distrofia miotonica (DM) è una malattia genetica
neuromuscolare degenerativa, autosomica dominante,
caratterizzata da un quadro clinico variabile. Ne esistono
2 forme: tipo 1, o distrofia miotonica di Steinert e tipo 2 o
PROMM (proximal myotonic myopaty).
Il caso clinico descritto è un esempio di DMS congenita
e mostra in modo evidente il fenomeno dell’anticipazione
all’interno di una stessa famiglia
Un'ipotonia sospetta
No full textLa PWS è una malattia genetica rara (1 su 25.000
nati), caratterizzata da ipotonia alla nascita con
ripercussioni sulla funzione respiratoria e sulla capacità
di alimentazione con conseguente scarsa crescita.
Nell’infanzia l’ipotonia tende a ridursi, ma compaiono
obesità (causata da iperfagia e atteggiamenti ossessivi
verso il cibo), bassa statura (rispondente al trattamento
con GH), acromicria, ipogonadismo, disturbi del sonno,
ritardo mentale di gravità variabile e psicosi che rendono
complessa la gestione di questi pazienti. La precocità
della diagnosi consente di migliorare nettamente la
prognosi inserendo tempestivamente il bambino in un
percorso specifico: presa in carico riabilitativa, terapia
ormonale e soprattutto l’educazione ed il supporto ai care
givers. A. e la famiglia sono state indirizzate ad un centro
di riferimento e alle associazioni di famiglie di soggetti
affetti
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
No full textThe most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375AOG (R459G) and 1378COT (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes. This study suggests that denaturing high-performance liquid chromatography would be a fast and reliable tool in the investigation of the molecular defects in the SPG4 gene
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
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
No full textHereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. We report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A. Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity
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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