57 research outputs found
The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: Challenges and progress made
No full textRecently we have witnessed the rapid translation into clinical practice of noninvasive prenatal testing for the common aneuploidies, most notably within USA and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium risk pregnancies identified by serum screening and/or ultrasoundscanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single gene disorders and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders
Self-Control of Avoidance Motivation: Implications for Understanding Frontal Cortical Asymmetry
No full textSelf-control involves the inhibition of dominant response tendencies. Most research on self-control has examined the inhibition of approach-motivated tendencies, and previous research has found that right frontal cortical asymmetry facilitates the inhibition of approach-motivated behaviors. The current experiments tested the hypothesis that a manipulated increase in right frontal cortical asymmetry facilitates the inhibition of avoidance-motivated responses. In Experiment 1, participants used a joystick to pull neutral images toward and push threatening images away from the body and then received 15 minutes of transcranial direct current stimulation. Afterward participants pulled threatening images toward and pushed neutral images away from the body. This response required self-control insofar as pushing away (not pulling) threatening stimuli is the dominant response tendency. Stimulation to increase right frontal cortical asymmetry caused threats to be pulled toward the body faster. A second Experiment, using the same task as Experiment 1, directly compared the self-control of approach and avoidance impulses. Results revealed that stimulation to increase right frontal asymmetry facilitated the self-control of impulses regardless of their motivational direction, representing first evidence that inhibiting avoidance-motivated behaviors shares a common neural mechanism with inhibiting approach-related behaviors: right frontal cortical asymmetry
A Meta-Analysis of the Facial Feedback Literature: Effects of Facial Feedback on Emotional Experience Are Small and Variable
No full textAbstract: The facial feedback hypothesis suggests that an individual’s experience of emotion is influenced by feedback from their facial movements. To evaluate the cumulative evidence for this hypothesis, we conducted a meta-analysis on 286 effect sizes derived from 138 studies that manipulated facial feedback and collected emotion self-reports. Using random effects meta-regression with robust variance estimates, we found that the overall effect of facial feedback was significant, but small. Results also indicated that feedback effects are stronger in some circumstances than others. We examined 12 potential moderators, and three were associated with differences in effect sizes. 1. Type of emotional outcome: Facial feedback influenced emotional experience (e.g., reported amusement) and, to a greater degree, affective judgments of a stimulus (e.g., the objective funniness of a cartoon). Three publication bias detection methods did not reveal evidence of publication bias in studies examining the effects of facial feedback on emotional experience, but all three methods revealed evidence of publication bias in studies examining affective judgments. 2. Presence of emotional stimuli: Facial feedback effects on emotional experience were larger in the absence of emotionally evocative stimuli (e.g., cartoons). 3. Type of stimuli: When participants were presented with emotionally evocative stimuli, facial feedback effects were larger in the presence of some types of stimuli (e.g., emotional sentences) than others (e.g., pictures). The available evidence supports the facial feedback hypothesis’ central claim that facial feedback influences emotional experience, although these effects tend to be small and heterogeneous
A Meta-Analysis of the Facial Feedback Literature: Effects of Facial Feedback on Emotional Experience Are Small and Variable
No full textThe facial feedback hypothesis suggests that an individual’s experience of emotion is influenced by feedback from their facial movements. To evaluate the cumulative evidence for this hypothesis, we conducted a meta-analysis on 286 effect sizes derived from 138 studies that manipulated facial feedback and collected emotion self-reports. Using random effects meta-regression with robust variance estimates, we found that the overall effect of facial feedback was significant, but small. Results also indicated that feedback effects are stronger in some circumstances than others. We examined 12 potential moderators, and three were associated with differences in effect sizes. 1. Type of emotional outcome: Facial feedback influenced emotional experience (e.g., reported amusement) and, to a greater degree, affective judgments of a stimulus (e.g., the objective funniness of a cartoon). Three publication bias detection methods did not reveal evidence of publication bias in studies examining the effects of facial feedback on emotional experience, but all three methods revealed evidence of publication bias in studies examining affective judgments. 2. Presence of emotional stimuli: Facial feedback effects on emotional experience were larger in the absence of emotionally evocative stimuli (e.g., cartoons). 3. Type of stimuli: When participants were presented with emotionally evocative stimuli, facial feedback effects were larger in the presence of some types of stimuli (e.g., emotional sentences) than others (e.g., pictures). The available evidence supports the facial feedback hypothesis’ central claim that facial feedback influences emotional experience, although these effects tend to be small and heterogeneous
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years
No full textBACKGROUND:
Nephrotic syndrome (NS) presenting early in life is caused by heterogeneous glomerular diseases. We retrospectively evaluated whether histological diagnosis in children presenting with NS in the first year of life predicts remission or progression to end-stage kidney disease (ESKD).
METHODS:
This is a single centre retrospective review of all children diagnosed with NS before one year of age between 1990 and 2009. All subjects had a renal biopsy, which was independently blindly reviewed by a single renal pathologist for the purpose of this study.
RESULTS:
Forty-nine children (25 female) who presented at 0.1-11.6 (median 1.6) months were included with 31 presenting within the first three months of life. Histopathological review diagnostic categories were; 13 Mesangial proliferative glomerulopathy (MesGN), 12 Focal and segmental glomerulosclerosis (FSGS), 11 Finnish type changes, eight Diffuse Mesangial Sclerosis (DMS), three Minimal change disease (MCD) and one each of Dense Deposit Disease (DDD) and Membranous nephropathy. Two children died from haemorrhagic complications of the biopsy. Eight children achieved remission (four MesGN, one Finnish type changes, one FSGS, one MCD and one membranous) with patient and renal survival of 73 % and 43 %, respectively, at follow-up duration of 5-222 (median 73) months (with five lost to follow-up). All children with Finnish-type histopathological changes presented within five months of age. Due to the historical nature of the cohort, genetic testing was only available for 14 children, nine of whom had an identifiable genetic basis (seven NPHS1, one PLCE1 and one ITGA3) with none of these nine children achieving remission. All of them had presented within four months of age and required renal replacement therapy, and two died.
CONCLUSIONS:
Histopathological findings are varied in children presenting with NS early in life. Whilst groups of histological patterns of disease are associated with differing outcomes, accurate prediction of disease course in a specific case is difficult and more widespread genetic testing may improve the understanding of this group of diseases and their optimal management
DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter
No full text
Author Correction: Gray and white matter integrity influence TMS signal propagation: a multimodal evaluation in cocaine-dependent individuals
No full textA correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.</jats:p
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