Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of approximately 5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A "111-bp" allele for the mfd220 locus was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant (chi 2 = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.     

A new scaling algorithm for the maximum mean cut problem

We present a new scaling algorithm for the maximum mean cut problem. The mean of a cut is defined by the cut capacity divided by the number of arcs crossing the cut. The algorithm uses an approximate binary search and solves the circulation feasibility problem with relaxed capacity bounds. The maximum mean cut problem has recently been studied as a dual analogue of the minimum mean cycle problem in the framework of the minimum cost flow problem by Ervolina and McCormick. A networkN=(G, lower, upper) with lower and upper arc capacities is said to be -feasible ifN has a feasible circulation when we relax the capacity bounds by ; that is, we use (lower(a)- , upper(a)+) bounds instead of (lower(a), upper(a)) bounds for each arca A. During an approximate binary search we maintain two bounds,LB andUB, such thatN is LB-infeasible andUB-feasible, and we reduce the interval size (LB, UB) by at least one-third at each iteration. For a graph withn vertices, m arcs, and integer capacities bounded byU, the running time of this algorithm is O(mn log(nU). This time bound is better than the time achieved by McCormick and Ervolina under thesimilarity condition (that is,U=O(n^o(1))). Our algorithm can be naturally used for the circulation feasibility problem, and thus provides a new scaling algorithm for the minimum cut problem.Research supported by a grant-in-aid of the Ministry of Education, Science and Culture of Japan.     

A 78-year-old man with young onset parkinsonism and sudden death

We report a right-handed 78-year-old man with early onset parkinsonism. The patient had an onset of micrographia at 23 years of the age in 1939. Seven years later he started to drag his right foot, and at 38 years of age, he walked with small steps with festination. Tremor was also present in his right hand. His daily life was independent as a otorhinolaryngologist. He visited our clinic on March 24, 1977 when he was mentally sound and showed mild parkinsonism consisting of masked face, stooped posture, small step gait, bradykinesia, and right side dominant rigidity and tremor. He showed good response to trihexyphenidyl and amantadine HCl. Two month later, he developed dyskinesia and some worsening of parkinsonism, and was admitted to our hospital for the first time. He was treated with 400 to 600 mg/day of levodopa/ carbidopa. He showed marked improvement, however, dyskinesia remained in his mouth. He was doing well until 77 years of age (June of 1993) when he developed hallucination and motor fluctuations. He was admitted again to our hospital on June 22, 1993. On admission, he was alert and appeared mentally sound. However, Hasegawa dementia scale was 18/30. Upward gaze was slightly restricted (3/5). Voice was somewhat small but no masking was noted. His posture was stooped and the gait was of small step. Dyskinesia was noted during walk. No rigidity nor tremor was noted. Deep tendon reflexes were lost but no sensory loss or motor weakness was noted. Routine laboratory studies were unremarkable. A cranial CT scan revealed only mild to moderate cortical atrophy. Motor and sensory conduction velocities were within normal limits, however, motor action potentials could not be obtained with stimulation to the right common peroneal nerve. He was treated with 600 mg/day of levodopa with carbidopa, 100 mg of amantadine HCl, 300 mg of Dops, and 25 mg of tiapride. He continued to show motor fluctuations, and was discharged on July 23, 1993. Since then his motor functions had become progressively worse with frequent falls, but he was still able to walk without support. On October 3 of 1994, he went to bed as usual. On the next morning, he was found dead in his bed at 9: 30. The patient was discussed in neurological CPC, and the chief discussant arrived at the conclusion that the patient had young-onset Parkinson's disease with Lewy bodies in the substantia nigra. Opinions were divided between Parkinson's disease and Lewy body negative young onset parkinsonism. Postmortem examination revealed obstruction of the trachea by aspirated foods, and the cause of death appeared to have been suffocation by the foods. Macroscopically, the external appearance of the brain was unremarkable except for slight frontal atrophy. The substantia nigra showed depigmentation in the lateral part, but the pigmentation of the medial part was well preserved. Upon histologic examination, the number of pigmented neurons in the dorsomedial part was well preserved. In the lateral part, pigmented neurons were well preserved in the dorsal area, however, in the ventral area, only non-pigmented neurons were seen; they appeared to be neurons in the pars reticulata. No gliosis was seen in any of the nigral areas. No Lewy bodies were seen in the remaining neurons. So-called immature neurons with rounded shape without neuromelanin could not be detected. The locus coeruleus neurons were well preserved. The putamen and the other basal ganglia structures were also intact. Slight myelin pallor was noted in the subcortical white matter, however, otherwise cerebral cortices were normal. The histology of this patient is unique in that only the ventrolateral part of the substantia nigra showed abnormal finding consisting of lack of pigmented neurons without gliosis. It is not clear whether the nigral change represents degeneration or a congenital "hypoplasia'. To our knowledge, such a unique pathology of the substantia nigra has not been reported in the literature. Our patient ma     

A scalable interest-oriented peer-to-peer pub/sub network

There has been a big challenge in structured peer-to-peer overlay network research area. Generally, a structured overlay network involves nodes evenly or based on their resource availabilities, and gathers nodes?? resources to achieve some bigger tasks. The challenge here is to gather resources based on nodes?? interests, and only interested nodes are involved in a certain task. Toward this challenge, we propose a new scheme to a peer-to-peer publish/subscribe network. Publish/subscribe represents a new paradigm for distributed content delivery. It provides an alternative to address-based communication due to its ability to decouple communication between the source and the destination. We propose a Bloom filter based mapping scheme to map IDs to nodes?? interests in addition to new interest proximity metric to forward events and to build nodes?? routing tables. We also propose a new approach called ??shared interest approach?? for network discovery. To evaluate the algorithms proposed in this work, we conducted simulations in both static and dynamic settings, and found a low false positive rate. We also discuss about a well-known application called Twitter, and show how our scheme would work in a real environment.     

A control method with pheromone information for a transport system

Since the control methods of a transport system between processing machines are specialized for each layout of the system, it is difficult to design prompt schedules and control logic for new complicated systems, especially in cases of machine faults or restructuring the system to modify the layout. In this article, we describe a multiagent transport control system which utilizes pheromone information. Each element of the system acts as an agent and estimates the appropriate path and time to drive out the products using information obtained by communication with other elements as well as pheromone information deposited on the tracks of the products.     

Unsupervised WSD by Finding the Predominant Sense Using Context as a Dynamic Thesaurus

We present and analyze an unsupervised method for Word Sense Disambiguation (WSD). Our work is based on the method presented by McCarthy et al. in 2004 for finding the predominant sense of each word in the entire corpus. Their maximization algorithm allows weighted terms (similar words) from a distributional thesaurus to accumulate a score for each ambiguous word sense, i.e., the sense with the highest score is chosen based on votes from a weighted list of terms related to the ambiguous word. This list is obtained using the distributional similarity method proposed by Lin Dekang to obtain a thesaurus. In the method of McCarthy et al., every occurrence of the ambiguous word uses the same thesaurus, regardless of the context where the ambiguous word occurs. Our method accounts for the context of a word when determining the sense of an ambiguous word by building the list of distributed similar words based on the syntactic context of the ambiguous word. We obtain a top precision of 77.54% of accuracy versus 67.10% of the original method tested on SemCor. We also analyze the effect of the number of weighted terms in the tasks of finding the Most Frecuent Sense (MFS) and WSD, and experiment with several corpora for building the Word Space Model.     

Automatic 3D model reconstruction of cutting tools from a single camera

Collision detection by machining simulation requires the 3D models of rotating cutters. However, the 3D models of a cutter and holder are not always available. In this paper, a new method is proposed to design an automatic vision-based 3D modeling system, which is able to quickly reconstruct the 3D model of a cutter and holder when they are installed onto the spindle. Only a single camera is mounted on the machine tool to capture the image of the rotating cutter and holder. By viewing the rotating cutter and holder as an object of surface of revolution, the contour of the imaged cutter and holder can be used to reconstruct the 3D model as a stack of circular cross-sections. Then the complete generating function of the cutter and holder can be recovered from the cross-sections. Finally, the 3D model of the cutter is built by rotating the generating function around the spindle axis. The effectiveness and accuracy of the proposed method are verified by experiments on-machine using 12 kinds of cutters and holders, which can satisfy the requirement of collision detection.     

An accurate adaptive NURBS curve interpolator with real-time flexible acceleration/deceleration control

Parametric interpolation has been widely used in CNC machining because of its advantages over the traditional linear or circular interpolation. Many researchers focused on this field and have made great progress in the specific one, NURBS curve interpolation. These works greatly improved the CNC machining with constant feedrate, confined chord error and limited acceleration/deceleration. However, during CNC machining process, mechanical shocks to machine tool caused by the undesired acceleration/deceleration profile will dramatically deteriorate the surface accuracy and quality of the machined parts. This is, in most occasions, very harmful to machine tools. In this paper, an accurate adaptive NURBS curve interpolator is proposed with consideration of acceleration–deceleration control. The proposed design effectively reduces the machining shocks by constraining the machine tool jerk dynamically. Meanwhile, the constant feedrate is maintained during most time of machining process, and thus high accuracy is achieved while the feedrate profile is greatly smoothed. In order to deal with the sudden change of the acceleration/deceleration around the corner with large curvature, a real-time flexible acceleration/deceleration control scheme is introduced to adjust the feedrate correspondingly. Case study has been taken to verify the feasibility and advantages of the proposed design.     

Challenge: Concept of system life and its application to robotics

Artifact systems created by humans interact with the surrounding natural world and have a large-scale influence on our human lives. The most creditable concept to this critical issue of scientific and technological development seems to be “System Life” that is an innovative competence to be embodied into any artifact system for creating harmony in the world of natural entities and artifact systems interacting with each other. System life is defined as a seamless system of sensing, processing, activating and expressing mechanisms governed by system life information. This paper introduces a design approach of robots possessing system life. First, this paper presents the concept of system life comparing it with the conventional design methodology of intelligent systems. Second, the paper introduces an intelligent control methodology using the cubic neural network that the author developed in order to cope with unpredicted failures. Finally, the paper presents various intelligent robots, a skiing robot, autonomous soccer robots, a game playing robot, as new concrete artifact systems designed using the system life concept.     

Ultra light-weight and high-resolution X-ray mirrors using DRIE and X-ray LIGA techniques for space X-ray telescopes

We are developing novel ultra light-weight and high-resolution X-ray micro pore optics for space X-ray telescopes. In our method, curvilinear micro pore structures are firstly fabricated by silicon deep reactive ion etching (DRIE) or X-ray LIGA processes. Secondly, side walls of the micro structures are smoothed by magnetic field assisted finishing and/or hydrogen annealing techniques for high reflectivity mirrors. Thirdly, to focus parallel X-ray lights from astronomical objects, these structures are elastically or plastically bent into a spherical shape. Fourthly, the bent structures are stacked to form a multi-stage X-ray telescope. In this paper, we report on fabrication and X-ray reflection tests of silicon and nickel X-ray mirrors using the DRIE and LIGA processes, respectively. For the first time, X-ray reflections were confirmed on both of the mirrors. Estimated rms roughnesses were 5 nm and 3 nm for the silicon and nickel mirrors, respectively.