Search

Your search keyword '"Arai, Shinji"' showing total 122 results
Start Over Author "Arai, Shinji"
122 results on '"Arai, Shinji"'

7. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

Author

Hikoya, Akiko, Hosono, Katsuhiro, Ono, Kaoru, Arai, Shinji, Tachibana, Nobutaka, Kurata, Kentaro, Torii, Kaoruko, Sato, Miho, Saitsu, Hirotomo, Ogata, Tsutomu, and Hotta, Yoshihiro

Subjects
DYSPLASIA, RETINITIS pigmentosa, FUNDUS oculi, GENETIC variation, RETINAL blood vessels, MEDICAL genetics, SIBLINGS
Abstract

Axial spondylometaphyseal dysplasia(axial SMD) is associated with early-onset retinal dystrophy and various skeletal dysplasias of varying severity. NEK1 is the causative gene for short rib polydactyly syndrome and axial SMD. Here, we report a case of siblings with juvenile retinitis pigmentosa (RP) and NEK1 variants not associated with systemic disorders. The patients were a 7-year-old-girl and a 9-year-old boy with RP, who were followed for 9 years. Whole exome sequencing (WES) was performed on the siblings and their parents, who were not consanguineous. The corrected visual acuity of the girl and the boy at first visit was binocular 20/63 and 20/100 OD and 20/63 OS, respectively. The siblings had narrowing of retinal blood vessels and retinal pigment epithelium atrophy in the fundus and showed an extinguished pattern in electroretinogram. On optical coherence tomography, there was a mottled ellipsoid band with progressive loss in the outer macular, the edges of which corresponded to the ring of hyperautofluorescence on fundus autofluorescence imaging. The siblings showed progressive visual field constriction. Radiological examination did not reveal any skeletal abnormalities. We identified two rare heterozygous NEK1 variants in the patients: c.240 G>A; p.(M80I) and c.634_639dup;p.(V212_L213dup). Heterozygous variants were recognized in the father and mother, respectively. According to the guidelines of the American College of Medical Genetics and Genomics, both variants were classified as likely pathogenic. This is the first report of RP patients with NEK1 variants not associated with skeletal abnormalities. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

10. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Author

Tachibana, Nobutaka, primary, Hosono, Katsuhiro, additional, Nomura, Shuhei, additional, Arai, Shinji, additional, Torii, Kaoruko, additional, Kurata, Kentaro, additional, Sato, Miho, additional, Shimakawa, Shuichi, additional, Azuma, Noriyuki, additional, Ogata, Tsutomu, additional, Wada, Yoshinao, additional, Okamoto, Nobuhiko, additional, Saitsu, Hirotomo, additional, Nishina, Sachiko, additional, and Hotta, Yoshihiro, additional

Published
2022
Full Text
View/download PDF

16. The use of robotics technology to study human joint kinematics: a new methodology

Author

Fujie, Hiromichi, Mabuchi, Kiyoshi, Woo, Savio L-Y., Livesay, Glen A., Arai, Shinji, and Tsukamoto, Yukio

Subjects
Joints -- Research, Robotics -- Usage, Research robots -- Usage, Kinematics -- Research, Engineering and manufacturing industries, Science and technology
Abstract

Robotics technologies have been modified to control and measure both the force and position of synovial joints for the study of joint kinematics. One such system was developed to perform kinematic testing of a human joint. A 6-axis articulated robotic manipulator with 6 degrees of freedom (DOF) of motion was designed and constructed; a mathematical description for joint force and position was devised; and hardware and software to control forces applied to the joint, as well as position of the joint, were developed. The new methodology was utilized to simulate physiological loading conditions and to perform an anterior-posterior (A-P) translation test on a human cadaveric knee. Testing showed that this new system can simulate complex loading conditions and also measure the resulting joint kinematics.

Published
1993

24. Astronomical studies by Zhao Youqin

Author

Arai, Shinji

Abstract

Zhao Youqin 趙友欽 was a Daoist priest of the Jindan-dao 金丹道 School who saw his best days in the first half of the 14th century. He was also the master of the noted Daoist priest Chen Zhixu 陳致虚. But he wrote an astronomical book entitled Gexiang Xinshu 革象新書, a unique book in the history of Chinese astronomy. This paper, based on this book, deals with (1) his cosmological theory, (2) astronomical instruments devised by him, (3) his views of eclipses and (4) the meaning of the title of his book. In addition, simulations contrived by him to explain astronomical phenomena by using pieces of paper and wood are also introduced in the paper. His simulations are evidence which shows that an approach to a better understanding of nature through experiment already existed in China in the 14th century.

Published
2009

31. [Untitled]

Author

Wada Kunihiko, M. Itoh, Arai Shinji, and K. Yasuda

Subjects
Materials science, Mechanical Engineering, Analytical chemistry, Mineralogy, Electron microprobe, Hydrothermal circulation, Tetragonal crystal system, Mechanics of Materials, Transmission electron microscopy, Phase (matter), General Materials Science, Cubic zirconia, Yttria-stabilized zirconia, Monoclinic crystal system
Abstract

Tetragonal to monoclinic phase transformation of yttria-stabilized zirconia, namely plasma-sprayed coatings and sintered bodies containing 4–8 mass % Y2O3 during hydrothermal aging was investigated with respect to Y2O3 distribution using 1 μmφ area from electron probe microanalysis (EPMA) and 20 nmφ area from transmission electron microscopy (TEM) analysis. Phase transformation at 473 K was prevented only in plasma-sprayed coatings having more than 6.7 mass % Y2O3 in 20 nmφ microscopic area. Furthermore, it was confirmed influence of Y2O3 distribution on the rate constants of this phase transformation was observed at 368 K.

Published
1999
Full Text
View/download PDF

32. [Untitled]

Author

Kazuhiro Yasuda, Arai Shinji, Suzuki Takao, M Itoh, and Masako Nakahashi

Subjects
Materials science, Mechanical Engineering, Mineralogy, engineering.material, Hydrothermal circulation, Atmosphere, Tetragonal crystal system, Coating, Chemical engineering, Mechanics of Materials, Phase (matter), engineering, General Materials Science, Cubic zirconia, Yttria-stabilized zirconia, Monoclinic crystal system
Abstract

The tetragonal to monoclinic phase transformation resulting from the hydrothermal ageing of 4–20 mass % yttria-stabilized zirconia plasma-sprayed coatings formed from commercial powders has been studied with respect to the Y2O3 distribution inside each coating. The phase transformation was prevented when the nominal Y2O3 concentration was greater than 8 mass % with its point to point distribution ranging between 6.82 to 9.90 mass %. It is suggested that a close correlation exists between the durability of the tetragonal phase in a humid atmosphere and the Y2O3 distribution in the tetragonal zirconia coatings. A content of 6.3–6.8 mass % Y2O3 was calculated to be necessary to prevent the transformation.

Published
1997
Full Text
View/download PDF

37. Interfacial reactions between titanium film and single crystal ?-Al2O3

Author

Koyama Miho, Seiichi Suenaga, Arai Shinji, and Masako Nakahashi

Subjects
Aluminium oxides, Materials science, Mechanical Engineering, Metallurgy, Intermetallic, chemistry.chemical_element, Titanium alloy, chemistry, Transition metal, Chemical engineering, Mechanics of Materials, Aluminium, Brazing, General Materials Science, Thin film, Titanium
Abstract

Titanium is commonly used to join metals and ceramics by active metal brazing methods. In this work, titanium was sputter deposited on to single-crystal α-Al2O3 substrates and the interfacial reactions between the titanium film and the Al2O3 substrate were studied. Al2O3 was reduced by titanium when samples were annealed at 973 and 1173 K for 300 s in an argon gas flow. Metallic aluminium was produced at the interface, and this diffused from the interface into the titanium film. At 1173 K, the intermetallic compound Ti3Al and the intermediate titanium oxides, such as Ti2O and TiO, were formed. The Al0 diffusion is important in stimulating interfacial reactions.

Published
1993
Full Text
View/download PDF

49. Solid-State Reactions of a 3D-Transition Metal-Ti/Al2O3 System

Author

Masako Nakahashi, Koyama Miho, Arai Shinji, and Seiichi Suenaga

Subjects
Diffraction, Auger electron spectroscopy, Materials science, Transition metal, chemistry, Annealing (metallurgy), Bilayer, Physical chemistry, chemistry.chemical_element, Diamond cubic, Thin film, Oxygen
Abstract

An interfacial mechanism for reactions between a Me-Ti thin film (Me=3d transition metals; Cu,Ni) and an A12O3 substrate is newly proposed. It has been clarified that Me3Ti3O (diamond cubic of Fd3m), which is formed as an intermediate phase in both the Cu-Ti/Al2O3 and Ni-Ti/Al2O3 systems, is responsible for the bonding between Me and A12O3. The solid-state reactions of the Me-Ti bilayer film/Al2O3 system were studied with Auger electron spectroscopy (AES) and X-ray diffraction (XRD) to clarify the interfacial reaction between Me-Ti and the A12O3 substrate. Me3Ti3O was observed at the interface between A12O3 and Me after annealing. Me3Ti3O was formed by oxidation of the Me-Ti compounds. The oxygen which reacted with the Me-Ti compounds has been found to be generated from the reduction of the A12O3 substrate.

Published
1993
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results