Search results for " pigmentos"
showing 10 items of 93 documents
Beneficial effects of saffron (
2020
Saffron (Crocus sativus L.) has been traditionally used in food preparation and as a medicinal plant. It currently has numerous therapeutic properties attributed to it, such as protection against ischemia, as well as anticonvulsant, antidepressant, anxiolytic, hypolipidemic, anti-atherogenic, anti-hypertensive, antidiabetic, and anti-cancer properties. In addition, saffron has remarkable beneficial properties, such as anti-apoptotic, anti-inflammatory and antioxidant activities, due to its main metabolites, among which crocin and crocetin stand out. Furthermore, increasing evidence underwrites the possible neuroprotective role of the main bioactive saffron constituents in neurodegenerative …
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
2011
For dominantly inherited disorders development of gene therapies, targeting the primary genetic lesion has been impeded by mutational heterogeneity. An example is rhodopsin-linked autosomal dominant retinitis pigmentosa with over 150 mutations in the rhodopsin gene. Validation of a mutation-independent suppression and replacement gene therapy for this disorder has been undertaken. The therapy provides a means of correcting the genetic defect in a mutation-independent manner thereby circumventing the mutational diversity. Separate adeno-associated virus (AAV) vectors were used to deliver an RNA interference (RNAi)-based rhodopsin suppressor and a codon-modified rhodopsin replacement gene res…
Grosor coroideo en la retinosis pigmentaria
2013
La coroides como estructura vascular ocular, se encuentra implicada en la fisiopatología de diversas patologías oftalmológicas. Recientemente se ha observado que su espesor se encuentra alterado en diferentes enfermedades coriorretinianas, y además su flujo se encuentra reducido en la Retinosis Pigmentaria. Por lo que planteamos una tesis para el estudio del grosor coroideo en esta distrofia coriorretiniana. Los objetivos de la misma fueron determinar cuantitativamente el grosor coroideo mediante tomografía de coherencia óptica (Cirrus-HD-OCT®) en pacientes con Retinosis Pigmentaria y en sujetos sanos; y su posterior comparación entre ambos grupos. Secundariamente se analizó su posible corr…
2020
X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR. Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs. We identified the novel hemizygous nonsense mutation c.1154T > A, p.Leu385* (NM_000328.3) causing a UAA PTC in RPGR and generated patient-derived fibroblasts. Immunocytochemistry of serum-starved control fibroblasts showed the RPGR protein in a dot-like expression pattern along the primary…
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
2011
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…
Reticulate postinflammatory hyperpigmentation with band-like mucin deposition
1998
Background Mucinoses of the skin are a group of disorders sharing accumulation of mucin in the skin or hair follicles. Postinflammatory hyperpigmentation, with pigmentary incontinence, is due to loss of melanin from epidermal basal cells and its accumulation in dermal macrophages. Methods We describe clinicopathologic features of two patients presenting with the association of pigmentary incontinence with an unusual diffuse, band-like dermal deposition of mucin, clinically presenting with reticular pigmented macular lesions. Results Two patients were observed with asymptomatic, persistent, reticular, pigmented patches located in the flexures, thighs, neck and back. Histology showed melanoph…
An innervated retroauricular skin flap for total earlobule reconstruction.
2003
In this article, the authors describe a technique for total earlobule reconstruction in a patient who underwent earlobule excision for basal cell carcinoma. The reconstruction was by means of an innervated retroauricular skin flap, folded double. The flap presented preserved skin sensitivity over all the reconstructed area, which is compromised by those techniques using a cranially or medially based flap which lead to the reconstruction of an insensible earlobule. This is a very important aspect of this technique, especially for those who wear pendant earrings, since a non-sensitive lobule would be more vulnerable to traumas causing laceration. In addition, it allows a good aesthetic result…
Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa.
2006
High-resolution images in macular disorders
2021
Objective: This study analyzed and compared the results of adaptive optics (AO) and fundus autofluorescence (FAF) in various maculopathies. Methods: The study included four different types of maculopathy: central serous chorioretinopathy (CSC), retinitis pigmentosa (RP), Stargardt disease (STGD) and phototoxic retinopathy. In all four cases, cone mosaic and cone density were obtained using AO fundus camera. Further, the high-resolution images were compared with the FAF and optical coherence tomography (OCT) results. Results: In CSC, FAF and AO, changes could be shown in the macula even two years after the subretinal fluid resorption, as opposed to a normal OCT. The improvement of FAF and co…