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1.
Filomena Napolitano Valentina Di Iorio Giuseppe Di Iorio Mariarosa Anna Beatrice Melone Fernando Gianfrancesco Francesca Simonelli 《Ophthalmic genetics》2019,40(1):39-42
Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD. 相似文献
2.
Dermoscopic difficult lesions: an objective evaluation of reflectance confocal microscopy impact for accurate diagnosis
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A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases
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J. I. Bilbao M.D J. Rodriguez-Cabello J. Longo G. Zornoza J. Páramo F. J. Lecumberri 《Abdominal imaging》1989,14(1):326-328
We present a case report of a patient suffering from portal and superior mesenteric vein thrombosis secondary to splenectomy. No surgical procedure could be performed due to the extension of thrombus.Local fibrinolysis treatment with urokinase through a percutaneous transhepatic approach was decided upon, and this procedure had a successful patient outcome. 相似文献
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José Ignacio Bilbao Mercedes Arias Jesús María Longo Pedro Luis Alejandre María Teresa Betés Arlette María Elizalde 《Cardiovascular and interventional radiology》1997,20(2):149-153
Percutaneous embolization of large portosystemic collaterals was performed in three patients following placement of a transjugular
intrahepatic portosystemic shunt in order to improve hepatopetal portal flow. Improved hepatic portal perfusion was achieved
in these cases, thereby theoretically reducing the risk of chronic hepatic encephalopathy. 相似文献