Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

FWN – Publicaties zonder aanstelling Universiteit Leide

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

FWN – Publicaties zonder aanstelling Universiteit Leide

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

FWN – Publicaties zonder aanstelling Universiteit Leide

Unconditional regard buffers children's negative self-feelings

BACKGROUND: Unconditional regard refers to the feeling that one is accepted and valued by others without conditions. Psychological theory suggests that experiences of unconditional regard lead children to feel that they are valuable despite setbacks. We hypothesized that reflecting on experiences of unconditional regard would buffer children's negative self-feelings (eg, shame, insecurity, powerlessness) in the face of setbacks. To test this hypothesis, we randomized children to reflect on experiences of unconditional regard or other experiences, and examined their response to an academic setback 3 weeks later.METHODS: Participants (11-15 years old) were randomly assigned to reflect for 15 minutes on experiences of unconditional regard (n = 91), conditional regard (n = 80), or other social experiences (n = 76). Research personnel, teachers, and classmates remained blind to condition assignment. Three weeks later, after receiving their course grades, children reported their self-feelings. Course grades were obtained from school records. Receiving low course grades represents a salient and painful real-world setback for children.RESULTS: Replicating previous research, children who received lower grades experienced more negative self-feelings (P &lt; .001). As predicted, this well-established relationship was significantly attenuated among children who had reflected, 3 weeks previously, on experiences of unconditional regard (Ps &lt; .03). Reflecting on unconditional regard specifically reduced negative self-feelings after low grades (P = .01), not after average or high grades (Ps &gt; .17).CONCLUSIONS: Reflecting on unconditional regard buffered children's selves against the adverse impact of an academic setback over an extended period of time. Unconditional regard may thus be an important psychological lever to reduce negative self-feelings in youth.<br/

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental researc