Search results for " Variation"

Determination of globotriaosylceramide in plasma and urine by mass spectrometry

2009

Abstract Background: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant α-galactosidase. Methods: Gb3 was purified from plasma or urine by combined liquid extraction/protein precipitation and solid-phase extraction, and was detected by flow-injection analysis electrospray mass spectrometry (MS) using multi-reaction-monitoring. Calibration was performed via standard addition using C17-Gb3 as internal standard. The most abundant…

Processing of word stress related acoustic information : A multi-feature MMN study

2016

In the present study, we investigated the processing of word stress related acoustic features in a word context. In a passive oddball multi-feature MMN experiment, we presented a disyllabic pseudo-word with two acoustically similar syllables as standard stimulus, and five contrasting deviants that differed from the standard in that they were either stressed on the first syllable or contained a vowel change. Stress was realized by an increase of f0, intensity, vowel duration or consonant duration. The vowel change was used to investigate if phonemic and prosodic changes elicit different MMN components. As a control condition, we presented non-speech counterparts of the speech stimuli. Result…

Evaluation of intraindividual contrast enhancement variability for determining the maximum achievable consistency in CT

2019

OBJECTIVE. The purpose of this study was to quantify temporal variability in vascular and parenchymal enhancement within the same patient and to determine technique-related factors contributing to this variability. MATERIALS AND METHODS. We identified 100 patients who underwent four CT scans within 12 months with identical acquisition and contrast injection parameters. Enhancement was recorded in the abdominal aorta, main portal vein, liver parenchyma, and subcutaneous fat. Patient demographic and body habitus data were recorded. Injection-related factors were recorded including delay time from contrast injection to image acquisition. All pairwise differences in enhancement within each pati…

Aesthetic judgments of music in experts and laypersons--an ERP study.

2010

We investigated whether music experts and laypersons differ with regard to aesthetic evaluation of musical sequences 16 music experts and 16 music laypersons judged the aesthetic value (beauty judgment task) as well as the harmonic correctness (correctness judgment task) of chord sequences The sequences consisted of five chords with the final chord sounding congruous, ambiguous or incongruous relative to the harmonic context established by the preceding four chords On behavioural measures, few differences were observed between experts and laypersons However, several differences in event-related potential (ERP) parameters were observed in auditory, cognitive and aesthetic processing of chord…

Geographic distribution and inheritance of three cytoplasmic incompatibility types in Drosophila simulans.

1991

Abstract Wolbachia-like microorganisms have been implicated in unidirectional cytoplasmic incompatibility between strains of Drosophila simulans. Reduced egg eclosion occurs when females from uninfected strains (type W) are crossed with males from infected strains (type R). Here we characterize a third incompatibility type (type S) which is also correlated with the presence of Wolbachia-like microorganisms. Despite the fact that the symbionts cannot be morphologically distinguished, we observed complete bidirectional incompatibility between R and S strains. This indicates that the determinants of incompatibility are different in the two infected types. S/W incompatibility is unidirectional …

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

2012

Co-adaptation of pheromone production and behavioural responses in Drosophila melanogaster males

1999

0016-6723 (Print) Journal Article Research Support, Non-U.S. Gov't; In Drosophila melanogaster, male courtship behaviour is genetically controlled and is influenced by sex pheromones. 7-tricosene (7-T) induces a dose-dependent inhibition of male-male courtship, whereas 7,11-dienes stimulate male courtship of females. There is a geographical quantitative variation in the production of two predominant male hydrocarbons, 7-T and 7-pentacosene (7-P). We have previously found that 7-P, the main hydrocarbon from males of West African strains, stimulates males that mainly produce 7-T. Using both 'natural' and genetically engineered strains, we find that genetic factors coding for low levels of 7-P…

Males influence maternal effects that promote sexual selection: a quantitative genetic experiment with dung beetles Onthophagus taurus

2003

J.S.K. was funded by the Academy of Finland, L.W.S. by the Australian Research Council, J.H. by an Australian Postgraduate Award, and J.L.T. by a postdoctoral research fellowship from the University of Western Australia. Recently, doubt has been cast on studies supporting good genes sexual selection by the suggestion that observed genetic benefits for offspring may be confounded by differential maternal allocation. In traditional analyses, observed genetic sire effects on offspring phenotype may result from females allocating more resources to the offspring of attractive males. However, maternal effects such as differential allocation may represent a mechanism promoting genetic sire effects…

Seasonality of Congenital Anomalies in Europe

2014

BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to etiologic factors. Methods: Data on births conceived in 2000 to 2008 were extracted from 20 European Surveillance for Congenital Anomalies population-based congenital anomaly registries in 14 European countries. We performed Poisson regression analysis encompassing sine and cosine terms to investigate seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 mi…

Drinking water disinfection by-products, genetic polymorphisms, and birth outcomes in a european mother-child cohort study

2016

Background: We examined the association between exposure during pregnancy to trihalomethanes, the most common water disinfection by-products, and birth outcomes in a European cohort study (Health Impacts of Long-Term Exposure to Disinfection By-Products in Drinking Water). We took into account exposure through different water uses, measures of water toxicity, and genetic susceptibility. Methods: We enrolled 14,005 mothers (2002-2010) and their children from France, Greece, Lithuania, Spain, and the UK. Information on lifestyle-and water-related activities was recorded. We ascertained residential concentrations of trihalomethanes through regulatory records and ad hoc sampling campaigns and e…