Kayo Suzuki

Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

Deletion of exons 45–55 (del45–55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characterized deletion breakpoints in three patients with del45–55 in DMD. Two of them were young adult males of the X-linked dilated cardiomyopathy phenotype, and the third patient revealed the mild Becker muscular dystrophy phenotype of late onset. The deletion breakpoints differed among patients. The deletion started at nt 226 604, 231 518, 117 284 in intron 44, and ended at nt 64 994, 59 314, 71 806 in intron 55, respectively. Deletion junctions showed no significant homology between the sequences adjacent to the distal and proximal end joints in these patients. Deletion breakpoints were not primarily associated with any particular sequence element, or with a matrix attachment region. However, there were several palindromic sequences and short tandem repeats at or near the breakpoints. These sequences, with a marked propensity to form secondary DNA structure intermediates, may predispose local DNA to breakage and intragenic recombination in these patients.

Mineralized rods and cones suggest colour vision in a 300 Myr-old fossil fish

Vision, which consists of an optical system, receptors and image-processing capacity, has existed for at least 520 Myr. Except for the optical system, as in the calcified lenses of trilobite and ostracod arthropods, other parts of the visual system are not usually preserved in the fossil record, because the soft tissue of the eye and the brain decay rapidly after death, such as within 64 days and 11 days, respectively. The Upper Carboniferous Hamilton Formation (300 Myr) in Kansas, USA, yields exceptionally well-preserved animal fossils in an estuarine depositional setting. Here we show that the original colour, shape and putative presence of eumelanin have been preserved in the acanthodii fish Acanthodes bridgei. We also report on the tissues of its eye, which provides the first record of mineralized rods and cones in a fossil and indicates that this 300 Myr-old fish likely possessed colour vision.

A Japanese case of SCA14 with the Gly128Asp mutation

AbstractSpinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxias caused by mutations in the protein kinase Cγ gene (PRKCG). We have identified a Japanese patient with SCA14 who carried the Gly128Asp mutation in PRKCG. She first noticed gait unsteadiness at around age 42, and then her gait ataxia worsened very slowly for more than 20 years. At age 62, she was still ambulatory, although cerebellar ataxia was clinically evident. She is the second patient identified with the G128D mutation. Both patients with this mutation showed pure cerebellar ataxia. With only two families with SCA14 found in Japan prior to this study, the clinical features and disease-causing mutations in PRKCG are heterogeneous in the same ethnic background.

Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia

We here report on a Japanese family with congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with slowly progressive cerebellar ataxia. The pedigree indicated autosomal dominant inheritance. All affected individuals showed a complete loss of upgaze function with ptosis, and severe or moderate restriction of downgaze function probably from the birth. Horizontal gaze function was well preserved, except for the eldest patient, who showed both eyes almost totally fixed in exotrophic position. The primary vertical and horizontal position of each eye varied from patient to patient. Aberrant eye movements were observed on attempted upgaze. They showed amblyopia and/or astigmatism, but none of them complained of diplopia. Pupillary reactions were normal, and retinal pigmentary degeneration or optic atrophy was not observed. These ophthalmological findings were consistent with the CFEOM phenotype. The two middle‐aged patients, but not the two younger patients, showed slowly progressive gait ataxia with juvenile onset. Magnetic resonance images of the brain indicated cerebellar atrophy in addition to congenital hypoplasia in the cerebellar vermis. Molecular genetic analysis provided a negative linkage to the FEOM3 locus. Linkage to the FEOM1 locus could not be excluded in our family, but mutation in KIF21A, a major cause of the CFEOM1 phenotype, was not detected. We consider that this family may broaden the spectrum of the clinical features of CFEOM or the related disorders presenting with the CFEOM phenotype.

New type of electronic encyclopedia for boys and girls-an application of multimedia videos to consumer electronics

A progressive concept of an electronic encyclopedia has been proposed for boys and girls in order to satisfy their interest in nature, i.e., butterflies and/or wild birds. Based on the new concept, a system application has been developed utilizing the integrated technologies of the computer systems, communication networks, and consumer electronics. Center facilities and navigation are important features of the new concept for realizing an electronic encyclopedia of butterflies and wild birds. The electronic encyclopedia stores more than one thousand items of butterflies and wild birds in MPEG2 format videos and/or JPEG format still pictures. Boys and girls can arbitrarily retrieve them though optical free-space transmission facilities, CATV or Internet lines, and broadcast transmitters utilize the navigation. At the final step of the retrieval, the boys and girls can see a frame of pictures of the designated butterfly without requiring any other knowledge other than touch-panel operations.

New processing system for on-line video image retrieval utilizing DSP

Finding the designated video shots from the video stream within a short time is a big issue in the multimedia consumer electronic applications. To largely reduce the time needed to access the desired video shots, a new system for retrieving the specific shots was built utilizing the on-line motion detection with the DSP. The specific video shots could be retrieved at a reduced processing time by using the DSP because a series of motion vectors were generated in real time on the DSP using the on-line Y signal image frames. The start and stop frame codes resulting from the retrieval easily pick up only the designated video shots from the video stream. The processing time from the motion detection to the start and stop frame code generation was equivalent to 13 ms per frame.

Does Optoelectronic Watermark Technology Migrate Into Business and Industry in the Near Future?Applications of Optoelectronic Watermarking Technology to New Business and Industry Systems Utilizing Flat-Panel Displays and Smart Devices

Proposed are new applications of image displays to invisible optoelectronic watermarking systems whose technique will be effectively used in business and industry. The system is basically characterized by paired installer and viewer of new kind to transfer hidden invisible auxiliary data on watermark code patterns. A flat-panel image display enabled us to demonstrate invisible data hidden behind the watermark codes embedded into object image data by use of the installer. Smartphones placed against the flat-panel displays enabled us to establish an optical link between them in a variation of the prototype for taking out of the watermark codes by use of the viewer. Therefore, each smartphone could be also used to resume original auxiliary data on the small display attached to the viewer. This kind of optoelectronic system was established with the aid of a smartphone. It was experimentally confirmed to be applied to business and industry by transferring alphanumeric characters stably.

Optimum Number of Blocks on each frame dissected to perform video retrieval ---Pitching scene retrieval for baseball games in terms of human sensation ---

The precision rate was much lower than the recall rate, when high recall rate was desired, in video retrieval because of unwanted video scenes contained in the designated scenes set. This paper describes an experimental study on the test of how to obtain high precision rate keeping the recall rate high, visually confirming the optimum number of dissected blocks used to perform the video retrieval in each video frame of baseball games. The test was carried out to check if the subjects could recognize the desired scenes correctly when sets of contiguous video frames, each dissected into one of 2 by 2 through 20 by 20 blocks, were demonstrated to the respective subjects in a random order of frame dissection into blocks. The result of the test showed that a satisfactory score was obtained from the frame consisting of 10 by 10 blocks. The result implies that unwanted scenes will be rejected from the pitching scenes sets when 10 by 10 blocks will be chosen for the video retrieval.

Applications of optoelectronic watermarking technique to new business and industry systems utilizing flat-panel displays and smart devices

Proposed are new applications of image displays to invisible optoelectronic watermarking systems whose technique will be effective in business and industry. The system is basically characterized by paired installer and viewer of new kind to transfer hidden invisible auxiliary data on watermark code patterns. A flat-panel image display enabled us to demonstrate invisible data hidden behind the watermark codes embedded into object image data by use of the installer. Smart devices placed against the flat panel displays enabled us to establish an optical link between them in a variation of the system for taking out and reading the watermark codes by use of the viewer. So, each smart device could also be used to resume original auxiliary data on the small display attached to the viewer. This kind of optoelectronic system established with a smart device was experimentally confirmed to be applied to business and industry by transferring alphanumeric characters stably.

Content indexing for specific scenes in baseball videos utilizing two-dimensional matching of intensity patterns

We propose a compact analyzer of video scenes to index pitching scenes in baseball games. We successfully matched 2D intensity patterns to index content. The harmonic mean of the precision and recall rates for pitching scenes was 80% for a matching factor of 80% in video frames.