In-Ho Song | Search PubMed

PubMed2003

A PC-based high-quality and interactive virtual endoscopy navigating system using 3D texture based volume rendering.

As an alternative method to optical endoscopy, visual quality and interactivity are crucial for virtual endoscopy. One solution is to use the 3D texture map based volume rendering method that offers high rendering speed without reducing visual quality. However, it is difficult to apply the method to virtual endoscopy. First, 3D texture mapping requires a high-end graphic workstation. Second, texture memory limits reduce the frame-rate. Third, lack of shading reduces visual quality significantly. As 3D texture mapping has become available on personal computers recently, we developed an interactive navigation system using 3D texture mapping on a personal computer. We divided the volume data into small cubes and tested whether the cubes had meaningful data. Only the cubes that passed the test were loaded into the texture memory and rendered. With the amount of data to be rendered minimized, rendering speed increased remarkably. We also improved visual quality by implementing full Phong shading based on the iso-surface shading method without sacrificing interactivity. With the developed navigation system, 256 x 256 x 256 sized brain MRA data was interactively explored with good image quality.

Anatomy, Cross-Sectional↗

PubMed2002

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Congenital myasthenic syndromes (CMSs) are frequently caused by mutations of the coding region of the acetylcholine receptor epsilon subunit (AChRepsilon) gene leading to a reduced expression of the acetylcholine receptor (AChR) at the postsynaptic membrane. Two recent observations have linked two different N-box mutations of the human AChRepsilon promoter to a clinical CMS phenotype. N-boxes are regulatory sequence elements of mammalian promoters that confer synapse-specific expression of several genes, including the AChR subunit genes. Here, we report on a novel point mutation (epsilon-154G-->A) in the N-box of the AChRepsilon promoter in a German CMS pedigree. Semiquantitative analysis of AChRepsilon mRNA levels in the patient's muscle indicated significantly impaired AChRepsilon expression. We provide additional evidence of a pathogenic role for this mutation using the mutated promoter (epsilon-154G-->A) driving a heterologous gene (luciferase) in rat skeletal muscle. We show that agrin-induced gene expression is significantly reduced by the N-box mutant (mt) compared with the wild-type (wt) promoter. Refined haplotype analysis and direct sequencing revealed maternal inheritance of the mutant AChRepsilon promoter (epsilon-154G-->A) together with paternal inheritance of a chromosomal microdeletion (Delta1290 bp) encompassing the promoter and the first two exons of the AChRepsilon gene in the index patient. In conclusion, we provide genetic and functional evidence that a mutation of the AChRepsilon subunit promoter (epsilon-154G-->A) causes CMS due to the reduction of gene expression in skeletal muscle. Moreover, this is the first report of a chromosomal microdeletion affecting an AChR gene. This type of mutation may be missed in standard screening techniques of CMS patients.

Adult↗