Search results for "GUI"
showing 10 items of 12462 documents
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Isolation in small populations of Wayampi Amerindians promotes endemicity and homogenisation of their faecal virome, but its distribution is not enti…
2018
The isolated community of the Wayampi Amerindians has been extensively studied for the presence of beta lactamase-producing enterobacteria and their gut microbiota. However, no information about their virome was available. This study tries to establish potential associations between the virome and diverse epidemiological data, through the metagenomic study of the faecal prophages and DNA viruses from 31 samples collected in 2010. Taxonomic assignments, composition, abundance and diversity analyses were obtained to characterise the virome and were compared between groups according to several demographic, environmental and medical data. Prophages outnumbered viruses. Composition and abundance…
Carriage of Enterobacteria Producing Extended-Spectrum β-Lactamases and Composition of the Gut Microbiota in an Amerindian Community
2015
ABSTRACT Epidemiological and individual risk factors for colonization by enterobacteria producing extended-spectrum beta-lactamases (E-ESBL) have been studied extensively, but whether such colonization is associated with significant changes in the composition of the rest of the microbiota is still unknown. To address this issue, we assessed in an isolated Amerindian Guianese community whether intestinal carriage of E-ESBL was associated with specificities in gut microbiota using metagenomic and metatranscriptomic approaches. While the richness of taxa of the active microbiota of carriers was similar to that of noncarriers, the taxa were less homogeneous. In addition, species of four genera,…
The WHO guidelines for chronic hepatitis B fail to detect half of the patients in need of treatment in Ethiopia
2019
Background & Aims In 2015, the World Health Organization (WHO) issued guidelines for the management of chronic hepatitis B (CHB) in low- and middle-income countries, but little is known about the applicability of the WHO treatment criteria in sub-Saharan Africa. The aim of this study was to evaluate the diagnostic performance of the WHO guidelines in a large CHB cohort in Ethiopia. Methods Treatment-naive adults who attended a public CHB clinic in Addis Ababa were included in this analysis. All patients underwent a standardized evaluation at recruitment, including blood tests and transient elastography (Fibroscan®). A Fibroscan result >7.9 kPa was used to define significant fibrosis and >9.…
Effects of cognitive-behavioral therapy with relaxation vs. imagery rescripting on psychophysiological stress responses of students with test anxiety…
2018
Background and objectives: Psychophysiological measures were assessed in university students during a test simulation before and after group treatment for test anxiety based on cognitive behavioral...
A randomized controlled trial of unguided internet cognitive-behavioral treatment for perfectionism in individuals who engage in regular exercise.
2018
OBJECTIVE Clinical perfectionism has been found to be a risk and maintaining factor in eating disorders (EDs), compulsive exercise, and athlete burnout. This study investigated whether an unguided internet cognitive-behavioral treatment (ICBT) for perfectionism would reduce ED pathology, compulsive exercise, and burnout in individuals who engage in regular exercise. METHOD Participants were randomly allocated to intervention (n = 38) or waitlist control (n =29). A generalized linear mixed model (GLMM) analysis was conducted pre and post treatment. A follow-up analysis was conducted with the intervention group at 3 and 6 months. RESULTS The intervention group experienced a significant reduct…
Neurocognitive processing of auditorily and visually presented inflected words and pseudowords: Evidence from a morphologically rich language
2009
The aim of the study was to investigate how the input modality affects the processing of a morphologically complex word. The processing of Finnish inflected vs. monomorphemic words and pseudowords was examined during a lexical decision task, using behavioral responses and event-related potentials. The stimuli were presented in two modalities, visually and auditorily, to two groups of participants. Half of the words and pseudowords carried a case-inflection. At the behavioral level, the inflected words elicited a processing cost with longer decision latencies and higher error rates. At the neural level, pseudowords elicited an N400 effect, which was more pronounced in the visual modality. In…
Diagnosis, treatment and long-term outcomes of autoimmune pancreatitis in Spain based on the International Consensus Diagnostic Criteria: A multi-cen…
2015
Abstract Objectives Autoimmune pancreatitis (AIP) is a form of chronic pancreatitis that has been reported worldwide for the last two decades. The aim of this study is to analyse the clinical profile of patients from Spain with AIP, as well as treatments, relapses and long-term outcomes. Methods Data from 59 patients with suspected AIP that had been diagnosed in 15 institutions are retrospectively analysed. Subjects are classified according to the International Consensus Diagnostic Criteria (ICDC). Patients with type 1 AIP (AIP1) and type 2 AIP (AIP2) are compared. Kaplan–Meier methodology is used to estimate the overall survival without relapses. Results Fifty-two patients met ICDC, 45 pat…
Two systems of maintenance in verbal working memory: evidence from the word length effect.
2013
The extended time-based resource-sharing (TBRS) model suggested a working memory architecture in which an executive loop and a phonological loop could both support the maintenance of verbal information. The consequence of such a framework is that phonological effects known to impact the maintenance of verbal information, like the word length effect (WLE), should depend on the use of the phonological loop, but should disappear under the maintenance by the executive loop. In two previous studies, introducing concurrent articulation in complex span tasks barely affected WLE, contradicting the prediction from the TBRS model. The present study re-evaluated the WLE in a complex span task while co…
The time course of orthography and phonology: ERP correlates of masked priming effects in Spanish
2009
Abstract One key issue for computational models of visual-word recognition is the time course of orthographic and phonological information during reading. Previous research, using both behavioral and event related brain potential (ERP) measures, has shown that orthographic codes are activated very early but that phonological activation starts to occur immediately afterward. Here we report an ERP masked priming experiment in Spanish that investigates this issue further by using very strict control conditions. The critical phonological comparison was between two pairs of primes having the same orthographic similarity to the target words but differing in phonological similarity (e.g., conal-CA…