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Variation Analysis (variation + analysis)

Distribution by Scientific Domains

Medical Sciences	50%

Selected Abstracts

Variation analysis of ,3 -adrenergic receptor and melanocortin-4 receptor genes in childhood obesity

PEDIATRICS INTERNATIONAL, Issue 2 2007
TOMOE KINOSHITA
Abstract Background: Decreased energy expenditure and increased food intake are principal causes for obesity. In the present study, genotypes of ,3 -adrenergic receptor (,3AR) and of melanocortin-4 receptor (MC4R), both of which are believed to have a close link to the cause of obesity, were analyzed and compared with phenotypes of childhood obesity. Methods: Thirty-five obese children with moderate to severe obesity were enrolled. Direct sequencing of the MC4R coding region and pinpoint-polymerase chain reaction were used to detect genomic variation in the ,3AR gene using peripheral blood-derived DNA. Results: Allele frequency of Trp64Arg variation in the ,3AR gene in the obese subjects was 0.16, which is comparable with that in the healthy general population in eastern Asia. Comparison of phenotypical characteristics did not show a significant difference between Trp/Trp and Trp/Arg subjects. It was notable that body height SD was significantly higher in the Trp/Trp than the Trp/Arg subjects (0.93 ± 1.0 SD vs 0.07 ± 1.3 SD, P= 0.03). Annual weight gains were far beyond a hypothetical fat gain in an Arg64 heterozygote with decreased energy consumption, suggesting increased food intake in childhood obesity. There was, however, no variation in the MC4R gene despite thorough sequencing of the entire coding region. Conclusions: The Trp64Arg variation in the ,3AR gene has no relationship to the degree or the incidence of childhood obesity. The majority of childhood obesity can be characterized as tall stature, more rapid weight gain than that expected by decreased energy expenditure. Further investigation is necessary in regard to the increased food intake as a major cause of childhood obesity. [source]

Dynamic urinary proteomic analysis reveals stable proteins to be potential biomarkers

PROTEOMICS - CLINICAL APPLICATIONS, Issue 3 2009
Wei Sun
Abstract Human urinary proteome analysis is a convenient and efficient approach for understanding disease processes affecting the kidney and urogenital tract. Many potential biomarkers have been identified in previous differential analyses; however, dynamic variations of the urinary proteome have not been intensively studied, and it is difficult to conclude that potential biomarkers are genuinely associated with disease rather then simply being physiological proteome variations. In this paper, pooled and individual urine samples were used to analyze dynamic variations in the urinary proteome. Five types of pooled samples (first morning void, second morning void, excessive water-drinking void, random void, and 24,h void) collected in 1,day from six volunteers were used to analyze intra-day variations. Six pairs of first morning voids collected a week apart were used to study inter-day, inter-individual, and inter-gender variations. The intra-day, inter-day, inter-individual, and inter-gender variation analyses showed that many proteins were constantly present with relatively stable abundances, and some of these had earlier been reported as potential disease biomarkers. In terms of sensitivity, the main components of the five intra-day urinary proteomes were similar, and the second morning void is recommended for clinical proteome analysis. The advantages and disadvantages of pooling samples are also discussed. The data presented describe a pool of stable urinary proteins seen under different physiological conditions. Any significant qualitative or quantitative changes in these stable proteins may mean that such proteins could serve as potential urinary biomarkers. [source]

Optical turbulence vertical distribution with standard and high resolution at Mt Graham

MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, Issue 1 2010
E. Masciadri
ABSTRACT A characterization of the optical turbulence vertical distribution (C2N profiles) and all the main integrated astroclimatic parameters derived from the C2N and the wind speed profiles above the site of the Large Binocular Telescope (LBT) (Mt Graham, Arizona, USA) is presented. The statistics include measurements related to 43 nights done with a Generalized SCIDAR (GS) used in standard configuration with a vertical resolution ,H, 1 km on the whole 20 km and with the new technique (High Vertical Resolution GS) in the first kilometre. The latter achieves a resolution ,H, 20,30 m in this region of the atmosphere. Measurements done in different periods of the year permit us to provide a seasonal variation analysis of the C2N. A discretized distribution of C2N, useful for the Ground Layer Adaptive Optics (GLAO) simulations, is provided and a specific analysis for the LBT Laser Guide Star system ARGOS (running in GLAO configuration) case is done including the calculation of the ,grey zones' for J, H and K bands. Mt Graham is confirmed to be an excellent site with median values of the seeing without dome contribution ,= 0.72 arcsec, the isoplanatic angle ,0= 2.5 arcsec and the wavefront coherence time ,0= 4.8 ms. We find that the OT vertical distribution decreases in a much sharper way than what has been believed so far in the proximity of the ground above astronomical sites. We find that 50 per cent of the whole turbulence develops in the first 80 ± 15 m from the ground. We finally prove that the error in the normalization of the scintillation that has been recently demonstrated in the principle of the GS technique affects these measurements by an absolutely negligible quantity (0.04 arcsec). [source]

Let them fly or light them up: matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry and fluorescence in situ hybridization (FISH),

APMIS, Issue 11-12 2004
BIRGITTA SCHWEICKERT
This review focuses on clinical bacteriology and by and large does not cover the detection of fungi, viruses or parasites. It discusses two completely different but complementary approaches that may either supplement or replace classic culture-based bacteriology. The latter view may appear provocative in the light of the actual market penetration of molecular genetic testing in clinical bacteriology. Despite its elegance, high specificity and sensitivity, molecular genetic diagnostics has not yet reached the majority of clinical laboratories. The reasons for this are manifold: Many microbiologists and medical technologists are more familiar with classical microbiological methods than with molecular biology techniques. Culture-based methods still represent the work horse of everyday routine. The number of available FDA-approved molecular genetic tests is limited and external quality control is still under development. Finally, it appears difficult to incorporate genetic testing in the routine laboratory setting due to the limited number of samples received or the lack of appropriate resources. However, financial and time constraints, particularly in hospitals as a consequence of budget cuts and reduced length of stay, lead to a demand for significantly shorter turnaround times that cannot be met by culture-dependent diagnosis. As a consequence, smaller laboratories that do not have the technical and personal equipment required for molecular genetic amplification techniques may adopt alternative methods such as fluorescence in situ hybridization (FISH) that combines easy-to-perform molecular hybridization with microscopy, a technique familiar to every microbiologist. FISH is hence one of the technologies presented here. For large hospital or reference laboratories with a high sample volume requiring massive parallel high-throughput testing we discuss matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF) of nucleic acids, a technology that has evolved from the post-genome sequencing era, for high-throughput sequence variation analysis (1, 2). [source]