Search results for "Variation"
showing 10 items of 2124 documents
Somatostatin-receptor scintigraphy in Graves' disease: reproducibility and variance of orbital activity.
2000
Somatostatin-receptor (SSTR) scintigraphy using the single photon emission computed tomography (SPECT) technique allows the assessment of orbital inflammation in patients with Graves' disease. Previous studies showed differences in orbital octreotide uptake already 4 hr after injection. In this study, analysis of inter-/intra-observer variance and reproducibility in the evaluation of orbital SPECT images was performed. First, SPECT data of one representative female patient with clinically active Graves' ophthalmopathy (GO), obtained 4 hr after intravenous injection of 110 MBq 111In-pentetreotide and processed by filtered backprojection, were analyzed. Transverse SPECT images were reconstruc…
Trends for genetic variation of Hepatitis C Virus quasispecies in Human Immunodeficiency virus-1 coinfected patients
2007
Chronic infection by Hepatitis C Virus (HCV) causes liver fibrosis, which is accelerated by unknown mechanisms in patients with HIV-1 coinfection. The evolution of HCV quasispecies in this setting of coinfection is not fully understood. To compare HCV quasispecies between HIV-HCV coinfection and HCV monoinfection, we sequenced 340 HCV clones from the HVR-1 and NS3 regions at two different time points in two groups of treatment-naive patients with HCV-1a infection: (1) HIV-HCV positive (n=6); and (2) HIV negative-HCV positive (n=3). In HCV/HIV coinfection, we found a trend for reduced HCV genetic complexity and diversity, and a trend towards reduced dN/dS ratios in the HVR-1 region, especial…
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Quantitative assessment of aortic stenosis by three-dimensional echocardiography
1997
The purpose of this study was to assess the feasibility of three-dimensional echocardiography in aortic stenosis. Planimetric determination of valve area and dynamic volume-rendered display were performed. Three-dimensional echocardiography permits display of any desired plane of the cardiac structure. Thus in the case of aortic stenosis, the plane used for planimetric evaluation can be positioned exactly through the valve orifice. Dynamic volume-rendered display may provide a spatial demonstration of the stenotic valve. In 48 patients aortic valve area was measured by planimetry. The three-dimensional data set was acquired by a workstation in the course of a multiplane transesophageal exam…
Intrasubject repeatability of corneal power, thickness, and wavefront aberrations with a new version of a dual rotating Scheimpflug–Placido system
2014
Purpose To determine the intrasubject repeatability of a recently introduced dual-camera rotating Scheimpflug–Placido imaging system (Galilei G4) in determining corneal thickness, power, and wavefront aberrations in young healthy subjects. Setting University of Valencia, Valencia, Spain. Design Prospective evaluation of diagnostic technology. Methods The study comprised right eyes of 25 subjects aged 20 to 40 years with a spherical equivalent ranging from −4.25 to +1.00 diopters. The central corneal thickness, thinnest point value and location, anterior and posterior surface curvatures, total corneal power, and corneal wavefront aberrations were measured for distance vision using the dual S…
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
Understanding the effect of window length and overlap for assessing sEMG in dynamic fatiguing contractions: A non-linear dimensionality reduction and…
2020
The Short-Time Fourier transform (STFT) is a helpful tool to identify muscle fatigue with clinical and sports applications. However, the choice of STFT parameters may affect the estimation of myoelectrical manifestations of fatigue. Here, we determine the effect of window length and overlap selections on the frequency slope and the coefficient of variation from EMG spectrum features in fatiguing contractions. We also determine whether STFT parameters affect the relationship between frequency slopes and task failure. Eighty-eight healthy adult men performed one-leg heel-rise until exhaustion. A factorial design with a window length of 50, 100, 250, 500, and 1000 ms with 0, 25, 50, 75, and 90…
The sound of music: differentiating musicians using a fast, musical multi-feature mismatch negativity paradigm.
2011
Abstract Musicians’ skills in auditory processing depend highly on instrument, performance practice, and on level of expertise. Yet, it is not known though whether the style/genre of music might shape auditory processing in the brains of musicians. Here, we aimed at tackling the role of musical style/genre on modulating neural and behavioral responses to changes in musical features. Using a novel, fast and musical sounding multi-feature paradigm, we measured the mismatch negativity (MMN), a pre-attentive brain response, to six types of musical feature change in musicians playing three distinct styles of music (classical, jazz, rock/pop) and in non-musicians. Jazz and classical musicians sco…
Repeatability of whole-cornea measurements using an anterior segment imaging device based on OCT and Placido-disk
2017
Current advances in refractive surgery require high accuracy of corneal measurements. We aim to evaluate the repeatability of topographic measurements using an integrated Placido disk - OCT device.Thirty right eyes of thirty healthy and young subjects were included. The topographic parameters of simulated keratometry, asphericity, minimum pachymetry, white-to-white distance, spherical aberration and corneal elevation were studied. Three measurements were taken by the same observer using the Visante omni device. The coefficient of repeatability (CoR), coefficient of variation (CoV) and intraclass correlation coefficient (ICC) were calculated to assess the repeatability. The Bland-Altman grap…