1,720,985 research outputs found
Molecular and functional characterization of new pathogenic mutations in mitochondrial ornithine and aspartate/glutamate transporters
No full textMutations in the SLC25A13 gene, coding for a liver-specific isoform of
the mitochondrial aspartate/glutamate carrier (AGC2), and in the
SLC25A15 gene, coding for ornithine carrier isoform 1 (ORC1), cause
type 2 citrullinemia (CTLN2) and hyperornithinemia–hyperammonemia–homocitrullinuria (3H syndrome), respectively. The aim of this
work was to identify and characterize novel mutations of these two
genes in patients presenting symptoms suggestive of AGC2 or ORC1
deficiency. In the AGC2 transcript of a Pakistani man living in Europe
suspected of being affected by CTLN2 (a highly prevalent disease in
Southeast Asia), a homozygous mutation, c.1763GNA, was found which
produces an R588Q change in the protein. In the ORC1 transcript of
patients suspected of 3H syndrome andhaving different ethnic origin, six
new homozygous mutations (c.110TNG, c.212TNA, c.337GNT, c.815CNT,
c.818TNA and c.847CNT) were found that produce M37R, L71Q, G113C,
T272I, M273K and L283F substitutions, respectively, in the protein. Each
mutation was functionally characterized in liposomes reconstituted with
AGC2 or ORC1 carrying the above-mentioned amino acid replacement.
They all reduced transport activity by approximately 90% in comparison
to the activity of the wild-type proteins suggesting that they are diseasecausing mutations
Cognitive dysfunction and depression in Fabry disease: a systematic review.
No full textBackground Fabry disease, an X-linked lysosomal storage
disorder, leads to multi-organ dysfunction, including cerebrovascular
disease and psychological disorders. However, the
prevalence and pattern of associated cognitive dysfunction is
not well understood.
Objectives To investigate whether there is reliable evidence
for neuropsychological impairment in patients with Fabry
disease and which cognitive domains are affected. To estimate
the prevalence of and factors associated with depression in
patients with Fabry disease.
Method Qualitative systematic review of the literature of
studies conducting neuropsychological assessment or measuring
the prevalence of depression in adults with Fabry disease
using the preferred reporting items for systematic reviews and
meta-analysis (PRISMA) guidelines where appropriate.
Results There is some evidence for neuropsychological impairment
in Fabry disease in executive functioning, information
processing speed and attention, with preservation of:
general intellectual functioning, memory, naming, perceptual
functioning and global cognitive functioning. Prevalence rates
of depression in Fabry disease ranged from 15%to 62%,with
the largest study to date reporting a prevalence rate of 46 %.
The most common factor associated with depression was
neuropathic pain, both directly and indirectly by affecting
social and adaptive functioning.
Conclusion Our review suggests that Fabry disease may be
associated with a characteristic pattern of cognitive deficits and
a high prevalence of psychological disorders such as depression
but highlights the limited available data. Exploring the nature of
cognitive impairment in Fabry disease using standardised neuropsychological
assessment, brain imaging and measures of
depression is an important task for future research
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
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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