Search results for "Aberration"
showing 10 items of 293 documents
Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.
2018
Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…
Identification of metastasis-related genes by genomic and transcriptomic studies in murine melanoma.
2021
Abstract Aims We systematically characterized metastatic murine B16-F10 melanoma, a sub-line derived from murine melanoma B16-F1 cells. Materials and methods RNA-sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel potential metastasis mechanisms. Chromosomal aberrations were identified by multicolor fluorescence in situ hybridization (mFISH) using all 21 murine whole chromosome painting probes. Key findings Numerous genes were overexpressed in B16-F10 cells, some of which have been already described as being metastasis-linked. Nr5a1/sf1, a known prognostic marker for adrenal tumors, was 177-fold upregulated in B16-F10 cells compared to B16-F1 cells.…
Chromosomal changes in renal oncocytomas Evidence that t(5;11)(q35;q13) may characterize a second subgroup of oncocytomas
1995
Many of the reported oncocytomas have different chromosome abnormalities, indicating that they comprise a cytogenetically heterogenous group of tumors consisting of potentially cytogenetic subgroups. We have performed cytogenetic studies on nine renal oncocytomas. Clonal abnormalities were present in eight tumors. The findings most observed were the loss of the Y chromosome, and abnormalities of chromosomes 1 and 22. We also observed telomeric associations (tas) in two tumors and structural aberrations of chromosomes 9p and 19q, as well as monosomy 10. In two cases we found a similar reciprocal t(5;11)(q35;q13) in two cases. Review of the literature disclosed one other oncocytoma with a t(5…
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…
2008
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…
Visual performance of the Akreos Adapt AO intraocular lens in patients with different corneal profiles measured with an adaptive optics visual simula…
2012
AIMS: To evaluate the visual performance of an aberration-free intraocular lens (IOL) in patients with different corneal profiles using adaptive optics visual simulation. METHODS: A crx1 adaptive optics visual simulator was used to simulate the aberration pattern of an aberration-free IOL combined with five corneal profiles: virgin corneas and corneas with low and high myopic ablations and low and high hyperopic ablations. Ten eyes of 10 subjects were evaluated, and monocular distance visual acuity (VA) at 100%, 50% and 10% of contrast was measured. RESULTS: At 100% of contrast, no differences were found in VA values among virgin corneas, low and high myopic ablations and low hyperopic abla…
Effect of Simulated IOL Tilt and Decentration on Spherical Aberration After Hyperopic LASIK for Different Intraocular Lenses
2011
PURPOSE: To evaluate visual quality differences among intraocular lenses (IOLs) in patients with previous hyperopic laser ablations and to assess the impact of decentration and tilt of IOLs on visual quality. METHODS: An adaptive optics visual simulator was used to simulate the wavefront aberration pattern of one aberration-correcting IOL (AcrySof IQ SN60WF, Alcon Laboratories Inc) and two spherical IOLs with different amounts of positive spherical aberration (Akreos Adapt [Bausch & Lomb] and Triplato [AJL Ophthalmic]) in five situations—centered, 0.2 mm and 0.4 mm of decentration, and 2° and 4° of tilt—in two groups: simulated low hyperopic laser corneal ablation (low hyperopia group)…
Visual simulation through an aspheric aberration-correcting intraocular lens in subjects with different corneal profiles using adaptive optics.
2013
The aim of this study was to analyse the visual quality of the AcrySof IQ SN60WF® intraocular lens (IOL) when combined with different corneal profiles. Ten eyes of 10 participants with no prior history of refractive or cataract surgery were evaluated. An adaptive optics visual simulator was used to simulate the wavefront aberration pattern of an aspheric aberration-correcting IOL (AcrySof IQ SN60WF®). Normal corneas (group A), low and high myopic corneal ablations (groups B and C, respectively) and low and high hyperopic corneal ablations (groups D and E, respectively) were also simulated. Monocular distance visual acuities at 100, 50 and 10 per cent of contrast were measured. At 100, 50 an…
Lentes de contato corneoesclerais adaptadas em córneas irregulares após cirurgia LASIK
2018
ABSTRACT Purpose: We aimed to describe the outcomes of corneoscleral contact lens fitting with multi-aspherical geometry designs in patients with irregular corneas after laser-assisted in situ keratomileusis (LASIK). Methods: This was a retrospective series of 18 patients (age, 26-38 years) selected from an eye clinic database. Participants were required to have unsatisfactory visual acuity with their current contact lenses or spectacles after LASIK for myopia correction. All patients were fitted with corneoscleral contact lenses designed to correct corneal surface irregularities. A diagnostic trial set was used for fitting, and assessments were performed according to a standardized methodo…
Visual simulation through different intraocular lenses using adaptive optics: Effect of tilt and decentration
2011
Purpose To analyze visual quality differences between intraocular lenses (IOLs) and assess the impact of IOL decentration and tilt on visual quality. Setting University of Valencia, Valencia, Spain. Design Cohort study. Methods The crx1 adaptive optics visual simulator was used to simulate the wavefront aberration pattern of 2 commercially available aspheric aberration-correcting IOLs (Acrysof IQ SN60WF and Tecnis ZA9003) and 2 spherical IOLs (Akreos Adapt and Triplato) in 5 situations: centered, decentered 0.2 mm and 0.4 mm, and tilted 2 degrees and 4 degrees. Monocular distance visual acuity at 100%, 50%, and 10% contrast and the depth of focus were measured. Results Ten eyes of 10 patien…
Simulated prototype of posterior chamber phakic intraocular lens for presbyopia correction.
2014
Purpose To evaluate the visual impact of adding different spherical aberration values to an Implantable Collamer Lens phakic intraocular lens (pIOL) to increase the depth of focus using an adaptive optics visual simulator. Setting University of Valencia, Valencia, Spain. Design Experimental study. Methods Wavefront aberrations in −3.00 D and −6.00 diopter (D) pIOLs were measured in vitro. Afterward, different simulated pIOL experimental prototypes were created along with variances in the spherical aberration. An adaptive optics visual simulator was used to simulate vision after the implantation of the different pIOL prototypes from their wavefront aberrations. The corrected distance visual …