Search results for "Aberration"
showing 10 items of 293 documents
Depth of focus through different intraocular lenses in patients with different corneal profiles using adaptive optics visual simulation
2011
PURPOSE: To evaluate the depth of focus with monofocal intraocular lenses (IOLs) in patients with different corneal profiles using adaptive optics (AO) visual simulation. METHODS: An AO visual simulator (crx1, Imagine Eyes) was used to simulate the aberration pattern of three monofocal IOLs (Acrysof IQ SN60WF [Alcon Laboratories Inc]; Akreos Adapt AO [Bausch & Lomb]; and Triplato [AJL Ophthalmic]) of different optic designs. Five groups were considered: patients without any corneal refractive surgery (normal cornea group) and with prior low and high myopic and hyperopic ablations (low myopic ablation, high myopic ablation, low hyperopic ablation, and high hyperopic ablation groups). De…
Myeloid sarcoma: clinico-pathologic, phenotypic and cytogenetic analysis of 92 adult patients.
2007
Myeloid sarcoma ( MS) is a rare neoplasm whose knowledge is largely based on case reports and/or technically dated contributions. Ninety-two MSs in adulthood with clinical data available were evaluated both morphologically and immunohistochemically. Seventy-four cases were also studied by fluorescent in situ hybridization on tissue sections and/or conventional karyotyping on bone marrow or peripheral blood. Histologically, 50% of the tumors were of the blastic type, 43.5% either monoblastic or myelomonocytic and 6.5% corresponded to different histotypes. CD68/KP1 was the most commonly expressed marker (100%), followed by myeloperoxidase (83.6%), CD117 (80.4%), CD99 (54.3%), CD68/PG-M1 (51%)…
Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
2005
Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993–2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies (1/1492), including 14 euchromatic SMCs (48.2%). Follow-up studies were available for 24 cases. Nine pregnancies (37.5%) were terminated; two children (8.3%) were born with Pallister–Killian syndrome …
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
2012
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) a…
Nucleoplasmic bridges and acrocentric chromosome associations as early markers of exposure to low levels of ionising radiation in occupationally expo…
2014
Ionising radiation, with the contribution of telomere shortening, induces DNA double-strand breaks that result in chromosome end fusion, nucleoplasmic bridges (NPBs) and chromosome aberrations (ChAbs) as well as dicentric chromosomes. In order to investigate the chromosomal damage induced by occupational ionising radiation at low exposure levels, and to find early markers of health hazard, peripheral lymphocytes of occupationally exposed hospital workers were cytogenetically analysed. Results showed a significant difference in the frequency of ChAbs in exposed subjects relative to controls. A significant number of NPBs between nuclei of binucleated cultured lymphocytes from exposed subjects…
Increasing the probability of selecting chromosomally normal embryos by time-lapse morphokinetics analysis
2013
Objective To study the differences in the cleavage time between chromosomally normal and abnormal embryos and to elaborate an algorithm to increase the probability of noninvasively selecting chromosomally normal embryos. Design Retrospective cohort study. Setting University-affiliated infertility center. Patient(s) Preimplantation genetic screening patients (n = 125; n=77 with ET), including cases of repeated implantation failure or recurrent miscarriage. A total of 504 embryos were analyzed. Intervention(s) Embryo culture within a time-lapse system. Main Outcome Measure(s) Kinetic variables included the time to 2 (t2), 3 (t3), 4 (t4), and 5 (t5) cells as well as the length of the second (c…
Bone marrowVEGFCexpression is associated with multilineage dysplasia and several prognostic markers in adult acute myeloid leukemia, but not with sur…
2018
Vascular endothelial growth factor C (VEGFC) stimulates leukemia cell proliferation and survival, and promotes angiogenesis. We studied VEGFC expression in bone marrow samples from 353 adult acute myeloid leukemia (AML) patients and its relationship with several clinical, cytogenetic, and molecular variables. We also studied the expression of 84 genes involved in VEGF signaling in 24 patients. We found that VEGFC expression was higher in AML patients with myelodysplasia-related changes (AML-MRC) than in patients with non-AML-MRC. We also found an association between VEGFC expression and the patient cytogenetic risk group, with those with a worse prognosis having higher VEGFC expression leve…
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…
Dynamic accommodation without feedback does not respond to isolated blur cues
2016
Highlights • A new methodology is used to study a potential cue for dynamic accommodation. • We show that human accommodation is not driven correctly by defocus alone. • Accommodation is most efficient using changes in stimulus vergence with feedback.
Changes in Accommodation and Ocular Aberration With Simultaneous Vision Multifocal Contact Lenses
2012
Objective: The aim of this study was to evaluate ocular aberration changes through different simultaneous vision multifocal contact lenses (CLs). Methods: Eighteen young-adult subjects with a mean age of 29.8 +/- 2.11 years took part. Changes in accommodative response, spherical aberration (C-4(0)), horizontal coma (C-3(1)), vertical coma (C-3(-1)), and root mean square (RMS) of higher-order aberrations (HOAs, third to sixth orders) were evaluated. Measurements were obtained with a distance-single vision CL and 2 aspheric multifocal CLs of simultaneous focus center-near design (PureVision Low Add and PureVision High Add) for 2 accommodative stimuli (-2.50 and -4.00 D). All measurements were…