Search results for "coding"
showing 10 items of 920 documents
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
2018
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…
Memory detection using fMRI - does the encoding context matter?
2015
Recent research revealed that the presentation of crime related details during the Concealed Information Test (CIT) reliably activates a network of bilateral inferior frontal, right medial frontal and right temporal-parietal brain regions. However, the ecological validity of these findings as well as the influence of the encoding context are still unclear. To tackle these questions, three different groups of subjects participated in the current study. Two groups of guilty subjects encoded critical details either only by planning (guilty intention group) or by really enacting (guilty action group) a complex, realistic mock crime. In addition, a group of informed innocent subjects encoded hal…
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
2006
Abstract Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DH…
Active and secreted IgA-coated bacterial fractions from the human gut reveal an under-represented microbiota core
2013
AbstractHost-associated microbiota varies in distribution depending on the body area inhabited. Gut microbes are known to interact with the human immune system, maintaining gut homoeostasis. Thus, we studied whether secreted-IgA (S-IgA) coat specific microbial taxa without inducing strong immune responses. To do so, we fractionated gut microbiota by flow cytometry. We found that active and S-IgA-coated bacterial fractions were characterized by a higher diversity than those observed in raw faecal suspensions. A long-tail effect was observed in family distribution, revealing that rare bacteria represent up to 20% of total diversity. While Firmicutes was the most abundant phylum, the majority …
Using Tic-Tac software to reduce anxiety-related behaviour in adults with autism and learning difficulties during waiting periods: A pilot study
2013
Deficits in the perception of time and processing of changes across time are commonly observed in individuals with autism. This pilot study evaluated the efficacy of the use of the software tool Tic-Tac, designed to make time visual, in three adults with autism and learning difficulties. This research focused on applying the tool in waiting situations where the participants exhibited anxiety-related behaviour. The intervention followed a baseline and intervention (AB) design, and a partial interval recording procedure was used to code the presence of stereotypes, nervous utterances, wandering or other examples of nervousness during the selected waiting situations. The results showed that t…
Forgetting at Short Term: When do Event-Based Interference and Temporal Factors Have an Effect?
2013
International audience; Memory tasks combining storage and distracting tasks performed at either encoding or retrieval have provided divergent results pointing towards accounts of forgetting in terms of either temporal decay or event-based interference respectively. The aim of this study was to shed light on the possible sources of such a divergence that could rely on methodological aspects or deeper differences in the memory traces elicited by the different paradigms used. Methodological issues were explored in a first series of experiments by introducing at retrieval computer-paced distracting tasks that involved articulatory suppression, attentional demand, or both. A second series of ex…
Effects of Emotional Context on Memory for Details: The Role of Attention
2013
It was repeatedly demonstrated that a negative emotional context enhances memory for central details while impairing memory for peripheral information. This trade-off effect is assumed to result from attentional processes: a negative context seems to narrow attention to central information at the expense of more peripheral details, thus causing the differential effects in memory. However, this explanation has rarely been tested and previous findings were partly inconclusive. For the present experiment 13 negative and 13 neutral naturalistic, thematically driven picture stories were constructed to test the trade-off effect in an ecologically more valid setting as compared to previous studies…
Can letter position encoding be modified by visual perceptual elements?
2018
A plethora of studies has revealed that letter position coding is relatively flexible during word recognition (e.g., the transposed-letter [TL] pseudoword CHOLOCATE is frequently misread as CHOCOLATE). A plausible explanation of this phenomenon is that letter identity and location are not perfectly bound as a consequence of the limitations of the visual system. Thus, a complete characterization of letter position coding requires an examination of how letter position coding can be modulated by visual perceptual elements. Here we conducted three lexical decision experiments with TL and replacement-letter pseudowords that manipulated the visual characteristics of the stimuli. In Experiment 1,…
Acceptability of Intimate Partner Violence among Male Offenders: The Role of Set-Shifting and Emotion Decoding Dysfunctions as Cognitive Risk Factors.
2019
Attitudes towards the acceptability of intimate partner violence against women (IPVAW) contribute to an increased risk of IPVAW perpetration, and these attitudes are common among IPVAW offenders. Research suggests that IPVAW offenders present cognitive deficits related to information processing. Little is known, however, about how these deficits are related to the acceptability of IPVAW. The main aim of this study was to explore the relationship between specific cognitive deficits (i.e., deficits in attention switching, set-shifting, and emotion decoding abilities) and the acceptability of IPVAW in a sample of 84 IPVAW offenders. Results revealed that IPVAW offenders with deficits in attent…
Diagnosis of Influenza: Only a Problem of Coding?
2013
<b><i>Objective:</i></b> To evaluate the characteristics of hospital discharge diagnoses of influenza measured by using specific International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9 CM) codes. <b><i>Subjects and Methods:</i></b> The study was conducted for the 3 years 2007, 2008 and 2011. The database included (1) administrative and clinical data on Sicilian patients admitted to acute care hospitals and (2) data from the influenza virological surveillance of 10 European countries (FluNet database). All Sicilian patients diagnosed with at least 1 ICD-9 CM code for influenza (487.0, 487.1 and 487.9) were considere…