Search results for "Variation"
showing 10 items of 2124 documents
Evaluation of the efficacy of oral deferiprone in beta-thalassemia major by multislice multiecho T2*.
2006
Objectives: Oral deferiprone (L1) appears to be promising in the treatment of beta-thalassemia major (TM) patients. T2* magnetic resonance imaging (MRI) with a single measurement in the mid-ventricular septum was validated as a quantitative evaluation of myocardial iron overload. Previous studies suggested a marked heterogeneity of iron distribution in the myocardium. We set up a multislice multiecho T2* MRI for the detection of this heterogeneity. The aim of our study was to investigate differences between the L1 vs. the subcutaneous desferrioxamine (DF)-treated patients using this new approach.Methods: Thirty-six beta-TM patients (age 29 +/- 8 yr) underwent MRI. Eighteen patients received…
(De-)Accentuation and the Processing of Information Status: Evidence from Event-Related Brain Potentials
2012
The paper reports on a perception experiment in German that investigated the neuro-cognitive processing of information structural concepts and their prosodic marking using event-related brain potentials (ERPs). Experimental conditions controlled the information status (given vs. new) of referring and non-referring target expressions (nouns vs. adjectives) and were elicited via context sentences, which did not – unlike most previous ERP studies in the field – trigger an explicit focus expectation. Target utterances displayed prosodic realizations of the critical words which differed in accent position and accent type. Electrophysiological results showed an effect of information status, maxi…
No association of alcohol dependence with HOMER 1 and 2 genetic variants.
2010
Several lines of evidence indicate that alterations of the central cortico-accumbens glutamate pathway are involved in the development and maintenance of alcohol- and substance-use disorders. The HOMER protein family is encoded by 3 genes HOMER (1–3) which are components of the excitatory postsynaptic density complex and function to modulate synaptic activity by the regulation of glutamate signaling. HOMER 1 and 2 have been reported to contribute to chronic alcohol-induced long-term neurochemical changes in the endogenous reward system. Data from animal models suggest a potential role of the Homer protein family in the development of alcohol and substance use. The aim of this study is to as…
Multislice multiecho T2* cardiovascular magnetic resonance for detection of the heterogeneous distribution of myocardial iron overload.
2006
Purpose To assess the tissue iron concentration of the left ventricle (LV) using a multislice, multiecho T2* MR technique and a segmental analysis. Materials and Methods T2* multiecho MRI was performed in 53 thalassemia major patients. Three short-axis views of the LV were obtained and analyzed with custom-written software. The myocardium was automatically segmented into 12 segments. The T2* value on each segment as well as the global T2* value were calculated. Cine dynamic images were also obtained to evaluate biventricular function parameters by quantitative analysis. Results For the T2* global value, the coefficient of variation (CoV) for intra-/interobserver and interstudy reproducibili…
Relationships between intrinsic motivation, physical self-concept and satisfaction with life: a longitudinal study.
2012
Abstract In this study, we examined the relationships between intrinsic motivation, physical self-concept, and satisfaction with life using cross-lagged panel models analysed via structural equation models. The sample consisted of 293 participants (148 men, 145 women) aged 18–70 years who performed diverse types of physical exercise. Three alternative models were tested. The data were better represented by a model in which physical self-concept mediates the relationships between intrinsic motivation and satisfaction with life. Specifically, the direct effects of intrinsic motivation on physical self-concept, and of physical self-concept on satisfaction with life were significant, with the a…
Measurement of EMG activity with textile electrodes embedded into clothing.
2007
Novel textile electrodes that can be embedded into sports clothing to measure averaged rectified electromyography (EMG) have been developed for easy use in field tests and in clinical settings. The purpose of this study was to evaluate the validity, reliability and feasibility of this new product to measure averaged rectified EMG. The validity was tested by comparing the signals from bipolar textile electrodes (42 cm(2)) and traditional bipolar surface electrodes (1.32 cm(2)) during bilateral isometric knee extension exercise with two electrode locations (A: both electrodes located in the same place, B: traditional electrodes placed on the individual muscles according to SENIAM, n=10 person…
Impact of HBV genotypes A and D genetic variability on infection evolution
2015
HBV is characterized by a high genetic variability, which is the basis of its classification into eight genotypes (A-H). HBV infection is associated with different outcomes, from self-limiting acute hepatitis to active chronic hepatitis, asymptomatic carriage, and occult infection. The aim of this study was to analyze the genetic variability of HBV genotypes A and D isolates from 79 cases of self-limiting acute hepatitis and chronic hepatitis, in order to identify HBV variants associated with resolution or chronicity of acute HBV infection. The entire preS-S sequence and a fragment of 346 bp of the preC-C region, containing Enhancer II and Basal Core Promoter sequences, were analyzed. A phy…
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …
Transthoracic three-dimensional echocardiographic volumetry of distorted left ventricles using rotational scanning
1997
The purpose of this study was to evaluate the relation of transthoracic three- and two-dimensional echocardiographic left ventricular volumetry to cineventriculographic volumetry. Twenty-five patients with distorted left ventricles were included in the study. To demonstrate the impact of acquiring data by rotational scanning, we performed three- and two-dimensional echocardiography in 36 latex ventricles with data acquisition in different areas of the ultrasound sectors. Interobserver and intraobserver variability were calculated to test for reproducibility. The three-dimensional imaging system consisted of a rotation motor device, a transthoracic 2.5 MHz transducer, a conventional ultrasou…
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…