1,721,033 research outputs found
The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on ransportinopathy.
No full textIntroduction: Limb-girdle muscular dystrophies (LGMD) are a clinical and genetically heterogeneous
group of muscle diseases presenting with a phenotypic spectrum. Autosomal dominant LGMDs represent
less than 10% of the group and are subdivided, according to the last classification, in five dominant
LGMD forms (type D1-D5), in which mutations in various genes have been identified. Dominant LGMD
might be due to a defect of DNAJB6 (LGMD D1), transportin-3 (LGMD D2, TNPO3-related), mutations in
HNRNPDL gene (LGMD D3), in CAPN3 gene (LGMD D4) and in collagen 6 (LGMD D5, collagen 6-related).
Areas covered: We present the pathomechanism of dominant LGMDs and clinical management of
respiratory and bulbar complications. We analyze the clinical presentation of cases affected by LGMD
D2 in a large Italo-Spanish family. We consider two main phenotypic entities: the childhood form
developing the clinical features in the first decade of life and the late-onset phenotype, that present
distinct clinical, histopathological and MRI features. The main features in dominant LGMDs, such as
LGMD D1, D3, D4, D5 are highlighted, including the differential ones with other dystrophies.
Expert opinion: Early diagnosis of LGMD, utilizing Next Generation Sequencing technique (NGS), is
crucial for offering an accurate diagnosis. Muscle MRI imaging is emerging both for diagnosis and
follow-up of disease progression
Granulomatosi necrotizzante eosinofila benigna del linfonodo. Descrizione di un caso
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Pituicytoma: Ultrastructural evidence of a possible origin from folliculo-stellate cells of the adenohypophysis
No full textPituicytoma is a rare neoplasm occurring in the sellar and suprasellar regions. The tumor is currently considered to arise from the pituicyte, a specialized glial cell of the posterior lobe and the stalk of the pituitary gland. The authors describe a case of pituicytoma, focusing on the ultrastructural features. The patient was a 79-year-old woman with hypopituitarism and visual disturbances. Immunohistochemically, the tumor showed strong and diffuse positivity for vimentin, and EMA and GFAP were focally detectable. Ultrastructurally, the lesion was composed of elongated cells containing in the Golgi area aggregates of intermediate filaments in a concentric pathway (fibrous body), and secretory granules, These features intermediate between a pituicytoma and a pituitary adenoma suggest that "pituicytomas" may also arise from the specialized stromal folliculo-stellate cells of the adenohypophysis, which are able to differentiate into endocrine cells
Mucin-secreting cellular ependymoma: A light and electron microscopy study
No full textMucin accumulation in ependymomas is thought to be limited to the myxopapillary variant and represents an important diagnostic feature. Similarly, signet-ring cells in ependymomas have been shown by electron microscopy to represent microrosette instead of mucin secretion. This study describes an infratentorial ependymoma largely composed of mucinous areas and signet-ring cells. The ependymal nature of mucin-secreting cells was confirmed by ultrastructural analysis. This case widens the variable spectrum of ependymal morphology. The value of electron microscopy in differentiating central nervous system neoplasms showing mucous secretion is stressed
[Chordoid tumor of the 3d ventricle: immunohistochemical and ultrastructural study of 3 cases].
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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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