Search results for "Cod"
showing 10 items of 2985 documents
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
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 …
Gender differences in adverse drug reactions in dermatological patients in west Sicily: an epidemiological study
2013
Purpose: The purpose of this study was to show that gender also plays an important role in pharmacokinetics, pharmacodynamics, and drug toxicity. It is only fair to take into account the so-called “gender-based medicine.” Methods: We again selected admission for cutaneous adverse drug reaction (CADRs), from January 2012 to July 2012, in order to detect and verify, in an analytical way, the substantial gender differences in adverse drug reactions in term incidence, clinical manifestations, severity and drugs involved. Results:In the period January–July 2012, at the Department of Dermatology and Sexually Transmitted Disease of A.O.U.P. “Paolo Giaccone” Palermo, 384 patients were admitted, of …
The Codevelopment of Group Relationships: The Role of Individual Group Member's and Other Group Members' Mutual Influence and Shared Group Environment
2019
Although recent research has provided empirical support for the codevelopment of group interaction (defined as development in a common direction of perceptions of group relationships), no studies have yet investigated the "causes" of codevelopment among group members in the long term. The aim of the current study is to examine how the perceptions of an individual group member, and other group members, regarding group relationships influence each other over the course of treatment. We analyzed group data from 168 adult obese patients who participated in (1 of 20) 12-session therapy groups for weight management. Group relationships were measured by the Group Questionnaire (Krogel et al., 2013…
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,…