1,721,193 research outputs found
RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE
Full text linkIntroduction: Fragile X syndrome is the most common form of inherited mental
retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene
located on X chromosome. Males carrying a full mutation are always mentally
retarded, whereas females carrying a full mutation show mild to moderate mental
impairment in only approximately 60% of cases, due to the X-inactivation process.
The absence of the FMR1 gene product, FMRP, in the brain is hypothesized as
causative for the observed mental retardation in fragile X patients. Antibody tests
have been developed to identify fragile X patients, based on the presence or absence
of FMRP in both lymphocytes and hair roots. It has been proposed that FMRP
expression in hair roots from females carrying a full mutation may be used as a
prognostic value for the mental capacities. Hair roots originate from the ectoderm,
like brain tissue, and may therefore show a better correlation between FMRP
expression and cognitive functioning than FMRP expression in lymphocytes, which
originate from the mesoderm.
Objectives: This study focussed on the relationship of the antibody test for cognitive
functioning in females carrying a full mutation using either hair roots or bloodsmears.
Method: Thirty samples from females carrying either a normal, premutation or full
mutation were included in this study. All subjects were selected from an Indonesian
fragile X family. The analyses were performed in a blind fashion. All subjects were
tested for FMRP expression in lymphocytes and hair roots using the antibody test.
Classification of the genotypes of the subjects was obtained by Southern blot
analysis. IQ equivalent were determined using Standard Progressive Matrices (SPM)
from Raven, a non-verbal IQ-test. Statistical analysis to show the correlation of
FMRP expression and IQ equivalent was developed using Pearson correlation.
Result: We report a significant relationship between FMRP expression in hair roots
and cognitive functioning in female carriers of the fragile X full mutation (r=0.64,
p=0.015) whereas in lymphocytes no significant relationship could be established
(r=0.31, p= 0.281). We also reported that FMRP expression in blood smear was
relatively higher than hair roots. We also demonstrated in our study group that IQ
equivalents were about 14 % in normal range, 7 % in the borderline range and 79 %
in mild mental impairment range.
Conclusion: Although the size of our study group was limited the results suggest that
FMRP expression in cell of hair roots has stronger correlation for cognitive
functioning in females carrying a full mutation than FMRP expression in
bloodsmears.
Keywords: fragile X syndrome, females full mutation, FMRP, cognitive functionin
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia
No full text
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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