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Wolfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabetes and vision, hearing and brain abnormalities which generally emerge in childhood. Mutations in the WFS1 gene predispose cells to endoplasmic reticulum stress-mediated apoptosis and may induce myelin degradation in neuronal cell models. However, in vivo evidence of this phenomenon in humans is lacking. White matter microstructure and regional volumes were measured using magnetic resonance imaging in children and young adults with Wolfram syndrome (n = 21) and healthy and diabetic controls (n = 50). Wolfram patients had lower fractional anisotropy and higher radial diffusivity in major white matter tracts and lower volume in the basilar (ventral) pons, cerebellar white matter and visual cortex. Correlations were found between key brain findings and overall neurological symptoms. This pattern of findings suggests that reduction in myelin is a primary neuropathological feature of Wolfram syndrome. Endoplasmic reticulum stress-related dysfunction in Wolfram syndrome may interact with the development of myelin or promote degeneration of myelin during the progression of the disease. These measures may provide objective indices of Wolfram syndrome pathophysiology that will be useful in unraveling the underlying mechanisms and in testing the impact of treatments on the brain.

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Objective: To determine whether a skills laboratory for corneal foreign body and rust ring removal improves self-assessed skill and confidence.Methods: A prospective trial was conducted as part of the didactic curriculum of a university-based residency program in emergency medicine (EM). A convenience sample of 26 EM residents and five fourth-year medical students participated. The skills laboratory used model corneas made by coating 3.2-cm glass spheres with a 1-2-mm film of paraffin. Foreign bodies were simulated by embedding small pieces of metal into the paraffin. Rust rings were simulated by dipping a hot, straightened paper clip into a rust-colored crayon and then into the paraffin. The model eyes fit into a life-sized model of a human head. Participants removed the foreign bodies and rust rings under supervision, using the slit lamp. Each participant anonymously completed a questionnaire before and after participating in the skills laboratory. The questionnaire recorded educational level, previous experience, and self-assessed comfort and skill levels (0 = lowest, 10 = highest).Results: Most (66%) of the participants had not previously removed a corneal foreign body; 86% had not previously removed a rust ring. On a ten-point scale, the median comfort level for removing a foreign body rose from 2 to 7, and t h e self-assessed skill level rose from 1 to 7 (p = 0.OOOl). Similar improvements in self-assessed comfort and skill levels were seen for rust ring removal.Conclusions: Participation in this skills laboratory significantly improved the self-reported comfort and self-assessed skill levels in removing corneal foreign bodies and rust rings. This technique provides useful practice of a fine-motor procedural skill requiring eye-hand coordination prior to supervised application of these skills in clinical practice.Acad. Emerg. Med. 1995; 223314334.