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1.
J Clin Med ; 11(6)2022 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-35329942

RESUMEN

Currently, brachytherapy is the most commonly used therapeutic approach for uveal melanomas. Surgical resection by means of endoresection or exoresection is an alternative approach. The present report recounts our experience over 15 years in the treatment of uveal melanoma using a combined approach of resection surgery with brachytherapy. This is a single-center observational retrospective cohort study in which we describe clinical outcomes, complications and survival in 35 cases of melanoma of the iris or the ciliary body after a combination of surgery and brachytherapy or brachytherapy alone. Local treatment of the tumor was successful in all cases with surgery and brachytherapy. The most frequent complications were scleromalacia, bullous keratopathy, retinal toxicity, cataracts, hypotonia, and photophobia. There were three cases of recurrence, all of which were found in the group of patients who had received brachytherapy alone, and in one case we had to perform a secondary enucleation due to tumor growth after brachytherapy. At present, only one patient has died during follow-up due to liver metastases six years after the start of treatment. In carefully selected patients, this approach can be effective and safe, as long as a close follow-up is carried out after surgery.

2.
Stem Cell Res ; 36: 101426, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30921587

RESUMEN

PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retinitis pigmentosa. A blood sample was obtained and mononuclear cells were reprogrammed using the non-integrative Sendai virus to generate the cell line CABi001-A. The iPSC line has been characterized for pluripotency and differentiation capacity and will be differentiated toward photoreceptors and retinal pigment epithelium cells to study the molecular mechanism of the disease and test possible therapeutic strategies.


Asunto(s)
Línea Celular , Proteínas del Ojo/genética , Células Madre Pluripotentes Inducidas , Retinitis Pigmentosa/genética , Anciano , Diferenciación Celular , Técnicas de Reprogramación Celular , Femenino , Heterocigoto , Humanos , Cariotipo , Leucocitos Mononucleares , Mutación Puntual
3.
Comput Biol Med ; 88: 100-109, 2017 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-28711766

RESUMEN

AIM: This paper presents a methodology and first results of an automatic detection system of first signs of Diabetic Retinopathy (DR) in fundus images, developed for the Health Ministry of the Andalusian Regional Government (Spain). MATERIAL AND METHODS: The system detects the presence of microaneurysms and haemorrhages in retinography by means of techniques of digital image processing and supervised classification. Evaluation was conducted on 1058 images of 529 diabetic patients at risk of presenting evidence of DR (an image of each eye is provided). To this end, a ground-truth diagnosis was created based on gradations performed by 3 independent ophthalmology specialists. RESULTS: The comparison between the diagnosis provided by the system and the reference clinical diagnosis shows that the system can work at a level of sensitivity that is similar to that achieved by experts (0.9380 sensitivity per patient against 0.9416 sensitivity of several specialists). False negatives have proven to be mild cases. Moreover, while the specificity of the system is significantly lower than that of human graders (0.5098), it is high enough to screen more than half of the patients unaffected by the disease. CONCLUSION: Results are promising in integrating this system in DR screening programmes. At an early stage, the system could act as a pre-screening system, by screening healthy patients (with no obvious signs of DR) and identifying only those presenting signs of the disease.


Asunto(s)
Retinopatía Diabética/diagnóstico por imagen , Técnicas de Diagnóstico Oftalmológico , Interpretación de Imagen Asistida por Computador/métodos , Retina/diagnóstico por imagen , Algoritmos , Diagnóstico Precoz , Fondo de Ojo , Humanos , Vasos Retinianos/diagnóstico por imagen
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