1,721,068 research outputs found
Adult-onset primary glaucoma and molecular genetics: A rewiev
No full textPURPOSE:
To evaluate recent molecular genetic studies focused on localizing and identifying the genes involved in adult-onset primary glaucoma, characterizing the gene products, and investigating the molecular mechanisms implicated in the pathophysiology of the disease.
METHODS:
Several studies have aimed at understanding gene expression and protein processing and attempting to correlate the mutations identified in the involved genes, particularly the TIGR/MYOC gene, with the overall spectrum of the disease, ranging from juvenile glaucoma to typical late-onset primary open-angle glaucoma. Genetic research remains essential until highly specific and sensitive tests have been developed (plausible disease-causing sequence variations, polymorphisms).
RESULTS:
The most effective method for detecting glaucoma clinically is the study of optic nerve and visual field damage, as well as intraocular pressure. In subjects at high risk, in members of families with a strong history of inherited glaucoma, and in families with a MYOC-positive test, the result may represent a marker to assess presymptomatic diagnosis and may be useful as a prognostic marker.
CONCLUSIONS:
OPTN seems to have a role confined to the pathogenesis of normotensive glaucoma with a few exceptions. Presently, the introduction of the expensive and time-consuming OPTN gene test in the current diagnosis of familial glaucoma is not justified
Primary open angle glaucoma in a case of Mitochondrial Encephalomyopathy (Kearns- Sayre Syndrome)
No full textPURPOSE:
Kearns-Sayre syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration and severe generalized myopathy.
METHODS AND RESULTS:
We report on a 82-year-old male patient with Kearns-Sayre syndrome with open angle glaucoma.
DISCUSSION:
Reports of primary open angle glaucoma with Kearns-Sayre syndrome are very rare, but it is difficult to believe that this association is merely coincidental
Mechanisms of secondary glaucoma in eyes with advanced retinoblastoma: histopathological
No full textPurpose: The association between retinoblastoma (RTB) and secondary glaucoma is well known. The most common cause of secondary glaucoma in RTB is iris neovascularization, followed by pupillary block and tumor seeding in the anterior chamber. Aim of this study is to review the glaucoma-inducing mechanism in a large italian population of RTB patients and discuss our experience with these cases
Methods: .
In the last five years we observed 152 cases of RTB; in 18 cases (17%) during the first examination under general anesthesia, elevated intraocular pressure was observed. Histopathological examination of these eyes was performed to understand the mechanisms inducing glaucoma.
Results: In six patients only (33%) the mechanism seemed to be an isolated one (four tumor seeding and two angle closure), in 12 patients (66%) a combination of more than one mechanism was observed (angle closure, tumor seeding and iris neovascularization
Conclusions: Although glaucoma is a secondary clinical issue in RTB management and care of its presence, revealed by a thorough ocular exam of the anterior segment, can guide the clinician in assessing the overall condition of the affected ey
Studio del flusso ematico retinico e della papilla ottica mediante flussimetria a scansione laser.
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
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