Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography.

We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS.

Classification of clustered microcalcifications using a Shape Cognitron neural network.

A new shape recognition-based neural network built with universal feature planes, called Shape Cognitron (S-Cognitron) is introduced to classify clustered microcalcifications. The architecture of S-Cognitron consists of two modules and an extra layer, called 3D figure layer lies in between. The first module contains a shape orientation layer, built with 20 cell planes of low level universal shape features to convert first-order shape orientations into numeric values, and a complex layer, to extract second-order shape features. The 3D figure layer is a feature extract-display layer that extracts the shape curvatures of an input pattern and displays them as a 3D figure. It is then followed by a second module made up of a feature formation layer and a probabilistic neural network-based classification layer. The system is evaluated by using Nijmegen mammogram database and experimental results show that sensitivity and specificity can reach 86.1 and 74.1%, respectively.