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High-resolution Mapping (high-resolution + mapping)
Selected AbstractsHigh-Resolution Mapping of Tachycardia Originating from the Superior Vena Cava: Evidence of Electrical Heterogeneity, Slow Conduction, and Possible Circus Movement ReentryJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 4 2002DIPEN C. SHAH M.D. Superior Vena Cava Reentry. High-resolution mapping of a tachycardia originating from the superior vena cava (SVC) in a patient with atrial fibrillation is described. Unidirectional circuitous repetitive activation encompassing the full tachycardia cycle length was documented around a line of block within the myocardial sleeve of the SVC. Intermittent conduction to the right atrium resulted in an irregular atrial tachycardia. Evidence of electrical heterogeneity and slow conduction persisted in sinus rhythm and was exaggerated by premature stimulation but did not reproduce the activation pattern during tachycardia. All the available evidence is best compatible with circus movement reentry within the SVC, with marked slow and anisotropic conduction responsible for the restricted dimensions of the reentrant circuit. These findings may suggest a similar substrate and arrhythmia mechanism in the myocardium of the pulmonary veins. [source] Characterization of amplicons in neuroblastoma: High-resolution mapping using DNA microarrays, relationship with outcome, and identification of overexpressed genesGENES, CHROMOSOMES AND CANCER, Issue 10 2008Anne Fix Somatically acquired chromosomal imbalances are a key feature of neuroblastoma, a heterogeneous pediatric solid tumor. Among these alterations, genomic amplification targeting the MYCN oncogene and observed in about 25,30% of the cases, strongly correlates with advanced stage and poor outcome. In this work, we have used BAC and SNP arrays as well as gene expression arrays to characterize amplifications in neuroblastoma. Eighty-eight distinct BACs defining high-level amplification events were identified in 65 samples, including 43 tumors and 22 cell lines. Although the highest recurrence was observed on chromosome 2, clones on chromosomes 8, 12, 16, and 17 also revealed genomic amplification in several samples. A detailed analysis of the 2p22-2p25 MYCN containing region indicated highly complex patterns in a number of cases. Coamplifications involving MYCN and other regions were explored by FISH in three cell lines. High-resolution arrays then allowed us to further refine the mapping of 25 amplicons in 19 samples, either reducing the size of a single continuous amplicon or increasing the complexity by highlighting multiple noncontiguous regions of amplification. Combined analysis of gene expression profiling and array-CGH data indicated that 12 to 25% of the genes that are targeted by genomic amplification are actually over-expressed in tumor cells, several of them having already been implicated in cancer. Finally, our results suggest that the presence of amplicons localized outside of chromosome 2, in addition to MYCN amplification, may be linked to a particularly severe outcome in neuroblastoma patients. © 2008 Wiley-Liss, Inc. [source] High-resolution mapping of the Gli3 deletion in the mouse extra-toesH mutantGENESIS: THE JOURNAL OF GENETICS AND DEVELOPMENT, Issue 3 2007Matthieu Genestine Abstract Extra-toes is a semidominant mutation that affects the Gli3 gene and provokes limb and brain abnormalities. Among the different alleles of this mutation, XtH is due to a deletion that has not yet been fully characterized. Using a PCR-based strategy, we undertook a high-resolution mapping of this deletion and confirmed that XtH is a null allele of Gli3. We further designed a PCR test to identify unequivocally heterozygous and homozygous embryos from their wild-type littermates. Despite the length of the XtH deletion, available data on the mouse genome indicate that no genes other than Gli3 are deleted in XtH mutants. Thus, the XtH mutation can be used as a model for studying the effects that absence of Gli3 function has during development. genesis 45:107,112, 2007. © 2007 Wiley-Liss, Inc. [source] High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes,HUMAN MUTATION, Issue 10 2008Marco Groth Abstract One unexpected feature of the human genome is the high structural variability across individuals. Frequently, large regions of the genome show structural polymorphisms and many vary in their abundance. However, accurate methods for the characterization and typing of such copy number variations (CNV) are needed. The defensin cluster at the human region 8p23.1 is one of the best studied CNV regions due to its potential clinical relevance for innate immunity, inflammation, and cancer. The region can be divided into two subclusters, which harbor predominantly either alpha- or beta-defensin genes. Previous studies assessing individual copy numbers gave different results regarding whether the complete beta-defensin cluster varies or only particular genes therein. We applied multiplex ligation-dependent probe amplification (MLPA) to measure defensin locus copy numbers in 42 samples. The data show strict copy number concordance of all 10 loci typed within the beta-defensin cluster in each individual, while seven loci within the alpha-defensin cluster are consistently found as single copies per chromosome. The exception is DEFA3, which is located within the alpha-defensin cluster and was found to also differ in copy number interindividually. Absolute copy numbers ranged from two to nine for the beta-defensin cluster and zero to four for DEFA3. The CNV-typed individuals, including HapMap samples, are publicly available and may serve as a universal reference for absolute copy number determination. On this basis, MLPA represents a reliable technique for medium- to high-throughput typing of 8p23.1 defensin CNV in association studies for diverse clinical phenotypes. Hum Mutat 0,1,8, 2008. © 2008 Wiley-Liss, Inc. [source] High-Resolution Mapping of Tachycardia Originating from the Superior Vena Cava: Evidence of Electrical Heterogeneity, Slow Conduction, and Possible Circus Movement ReentryJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 4 2002DIPEN C. SHAH M.D. Superior Vena Cava Reentry. High-resolution mapping of a tachycardia originating from the superior vena cava (SVC) in a patient with atrial fibrillation is described. Unidirectional circuitous repetitive activation encompassing the full tachycardia cycle length was documented around a line of block within the myocardial sleeve of the SVC. Intermittent conduction to the right atrium resulted in an irregular atrial tachycardia. Evidence of electrical heterogeneity and slow conduction persisted in sinus rhythm and was exaggerated by premature stimulation but did not reproduce the activation pattern during tachycardia. All the available evidence is best compatible with circus movement reentry within the SVC, with marked slow and anisotropic conduction responsible for the restricted dimensions of the reentrant circuit. These findings may suggest a similar substrate and arrhythmia mechanism in the myocardium of the pulmonary veins. [source] High-resolution mapping of the Gli3 deletion in the mouse extra-toesH mutantGENESIS: THE JOURNAL OF GENETICS AND DEVELOPMENT, Issue 3 2007Matthieu Genestine Abstract Extra-toes is a semidominant mutation that affects the Gli3 gene and provokes limb and brain abnormalities. Among the different alleles of this mutation, XtH is due to a deletion that has not yet been fully characterized. Using a PCR-based strategy, we undertook a high-resolution mapping of this deletion and confirmed that XtH is a null allele of Gli3. We further designed a PCR test to identify unequivocally heterozygous and homozygous embryos from their wild-type littermates. Despite the length of the XtH deletion, available data on the mouse genome indicate that no genes other than Gli3 are deleted in XtH mutants. Thus, the XtH mutation can be used as a model for studying the effects that absence of Gli3 function has during development. genesis 45:107,112, 2007. © 2007 Wiley-Liss, Inc. [source] Near-field mapping of surface refractive-index distributionsLASER PHYSICS LETTERS, Issue 9 2005I.P. Radko Abstract Scanning near-field optical microscopy (SNOM) in reflection is employed for high-resolution mapping of surface refractive-index distributions. Two different single-mode optical fibers with step-index profiles are characterized using a reflection SNOM setup, in which cross-polarized detection is employed to increase the contrast in optical images and, thereby, the method sensitivity. The SNOM images exhibit a clear ring-shaped structure associated with the fiber step-index profile, indicating that surface refractive-index variations being smaller than 10,2 can be detected. It is found that the quantitative interpretation of SNOM images requires accurate characterization of a fiber tip used, because the detected optical signal is a result of interference between the optical fields reflected by the sample surface and by the fiber tip itself. The possibilities and limitations of this experimental technique are discussed. (© 2005 by Astro, Ltd. Published exclusively by WILEY-VCH Verlag GmbH & Co. KGaA) [source] AFM and SNOM characterization of ordinary chondrites: A contribution to solving the problem of asteroid reddeningPHYSICA STATUS SOLIDI (B) BASIC SOLID STATE PHYSICS, Issue 8 2010Giuliano Pompeo Abstract Space weathering (SW) is an ensemble of processes that act on a body exposed to the space environment. Typically, the exposure to SW results in the accumulation, at the surface, of nanoparticles, that are thought to be produced through a vaporization and subsequent cooling of the metallo-silicaceous components exposed to the space environment. The presence of such nanoparticles is responsible for the so-called reddening of the asteroids' reflectance spectra (i.e., the increase in Vis,NIR reflectance with increase in wavelength) observed by remote-sensing measurements. To investigate the mechanism of formation of these nanoparticles, we have employed atomic force microscopy (AFM) and scanning near-field optical microscopy (SNOM) to morphologically and optically characterize ordinary chondrites (OC), the most abundant class of meteorites collected on Earth and whose parent bodies are the S-type asteroids. The AFM study reveals the occurrence of a diffuse nanophase (martensite) in the meteorite's metal inclusions. Since the same areas show a reddening of the reflectivity spectra, this suggests that such spectral modification is based on a shock-induced phase transformation of the metal components of the extraterrestrial body. To gain more insight into this nanophase and on its role in the SW of the asteroids, an optical characterization by SNOM has been performed on OCs. In this work we exploited the peculiarity of this technique to search for a correlation between the topography on the nanoscale and the spectral characteristics, at different wavelengths in the red-NIR range, of the observed nanophase. Indeed, a high-resolution mapping of the optical properties of the meteorite provides an interesting method to discriminate between martensite-based and Fe-silicaceous nanoparticles. [source] | ||||||||||||||||