Knowledge and attitudes about newborn screening for Fabry disease

Newborn screening is a public health program that identifies newborns who are at risk of having a life-threatening condition that will affect their health in infancy or childhood. Fabry disease is an X-linked lysosomal storage disorder with a variable age of onset from childhood through adulthood that was recently added to a few states’ newborn screening panels. Research on patient attitudes towards newborn screening for Fabry disease has been limited and this qualitative study aimed to gain a more complete understanding of the reasoning of adults with Fabry disease regarding the appropriateness of newborn screening for Fabry disease, their knowledge of newborn screening, and their experiences with Fabry disease. Participants were recruited from Children’s Hospital of Pittsburgh of UPMC’s Lysosomal Storage Disorders Clinic and six adults who have Fabry disease were interviewed. These interviews were transcribed and thematic analysis revealed six themes: influences of clinical spectrum and severity of Fabry disease, support systems, family dynamics, impact of timing of diagnosis and treatment availability on attitudes towards newborn screening, knowledge and attitudes towards newborn screening for Fabry disease, and impact of earlier diagnosis. Based on their personal experiences with Fabry disease, all participants were in favor of newborn screening for Fabry disease. Participants’ experiences with Fabry disease also reflected aspects of their family dynamics. The results of this qualitative study can inform genetic counseling practice for Fabry disease and future studies on NBS for Fabry disease. The opinions of stakeholders, including patients affected by the condition, are of public health significance and the results of this study can inform public health decisions as state legislators and state newborn screening programs consider whether to include Fabry disease on their state’s newborn screening panel

Schematic illustration of the dual-labeling TRFIA for simultaneous detection of aCL IgG and IgM.

<p>First, pipette 100μl/well pretreated standard substance or serum to microtiter plate that precoated with aCL antigen, and incubated the plate with shaking for 30 min at 25°C. A washing step removes unbound and unspecifically bound serum or plasma components. Second, added 100μl conjugate of buffer diluted Eu³⁺-labeled anti-human IgG and buffer diluted Sm³⁺-labeled anti-human IgM into each well, and incubated with shaking for 30min at 25°C. A second washing step removes unbound conjugate. Then, 200μl enhancement solution was pipette to each well and shaken for 5 min. Last, read the fluorescent intensity.</p

The Role of Spatial Configuration in Multiple Identity Tracking

<div><p>Background</p><p>The simultaneous tracking and identification of multiple moving objects encountered in everyday life requires one to correctly bind identities to objects. In the present study, we investigated the role of spatial configuration made by multiple targets when observers are asked to track multiple moving objects with distinct identities.</p><p>Methodology/Principal Findings</p><p>The overall spatial configuration made by the targets was manipulated: In the constant condition, the configuration remained as a virtual convex polygon throughout the tracking, and in the collapsed condition, one of the moving targets (critical target) crossed over an edge of the virtual polygon during tracking, destroying it. Identification performance was higher when the configuration remained intact than when it collapsed (Experiments 1a, 1b, and 2). Moreover, destroying the configuration affected the allocation of dynamic attention: the critical target captured more attention than did the other targets. However, observers were worse at identifying the critical target and were more likely to confuse it with the targets that formed the virtual crossed edge (Experiments 3–5). <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0093835#s9" target="_blank">Experiment 6</a> further showed that the visual system constructs an overall configuration only by using the targets (and not the distractors); identification performance was not affected by whether the distractor violated the spatial configuration.</p><p>Conclusions/Significance</p><p>In sum, these results suggest that the visual system may integrate targets (but not distractors) into a spatial configuration during multiple identity tracking, which affects the distribution of dynamic attention and the updating of identity-location binding.</p></div

Results of Experiment 3.

<p>Mean probe performance for different targets with error bars (SE).</p

Illustration of the target categories during configuration collapse.

<p>The left panel illustrates the configuration prior to collapse, and the right panel illustrates the moment when target “C” crossed edge “AB”.</p

The comparison of liner range between ELISA and dual-label TRFIA for the detection of aCL IgG (Fig 4a) and IgM (Fig 4b), respectively.

<p>The comparison of liner range between ELISA and dual-label TRFIA for the detection of aCL IgG (Fig 4a) and IgM (Fig 4b), respectively.</p

Correlation between ELISA and dual-label assay of aCL IgG (Fig 3a) and IgM (Fig 3b) in human sera (n = 52).

<p>Correlation between ELISA and dual-label assay of aCL IgG (Fig 3a) and IgM (Fig 3b) in human sera (n = 52).</p

Clinical positive rate.

<p>Clinical positive rate.</p

Results of Experiments 1a and 1b.

<p>A: The results of Experiment 1a. B: The results of Experiment 1b. Both panels depict mean tracking and identification performance with error bars (SE).</p

The strength and weakness of the dual-label TRFIA.

<p>The strength and weakness of the dual-label TRFIA.</p