Zobrazeno 1 - 10
of 272
pro vyhledávání: '"Takaaki Hayashi"'
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 621-627 (2024)
Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder that principally targets the central nervous system, specifically the spinal cord and optic nerves. NMOSD is often associated with thyroid pathologies such as Grav
Externí odkaz:
https://doaj.org/article/b7fbb3826b5c4dfcab8d2a6eca1a0229
Autor:
Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital ama
Externí odkaz:
https://doaj.org/article/0140d53651fb47e9808b8b5d93959952
Autor:
Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Reiko Miyahara, Hideyuki Shimanuki
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)
Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low vari
Externí odkaz:
https://doaj.org/article/a0a40200ace245f49c062e5cf42c6c3b
Autor:
Ayaka Nakajima, Kazuki Kuniyoshi, Chiharu Iwahashi, Fukutaro Mano, Takaaki Hayashi, Hiroyuki Kondo, Kei Mizobuchi, Itsuka Matsushita, Akiko Suga, Kazutoshi Yoshitake, Tadashi Nakano, Takeshi Iwata, Chota Matsumoto, Shunji Kusaka
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionCongenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retin
Externí odkaz:
https://doaj.org/article/5cc438d37d1e4519a8275761f4cfe3bc
Autor:
Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13678 (2023)
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5–6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LC
Externí odkaz:
https://doaj.org/article/fd1ddcea7e474033ac490adbafb3f5fd
Autor:
Naoko Ishiguro, Takaaki Hayashi, Yoshiko Yamawaki, Kei Mizobuchi, Tsutomu Yasukawa, Shigeru Honda, Tadashi Nakano
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2022 (2022)
Individuals with pachydrusen, larger than 125 μm, have a significantly thicker choroid than do those with soft drusen or reticular pseudodrusen. Little is known about cases of abnormal blood flow within pachydrusen. The purpose of this report was to
Externí odkaz:
https://doaj.org/article/aea8c8eda33d46cd8fade42483da4792
Autor:
Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)
Abstract Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P‐cadherin. Here, we report two Japanese sibling patients with HJMD. Me
Externí odkaz:
https://doaj.org/article/c874c589ce4c41a7b8e99730ab3be08d
Autor:
Michie Katsuta, Yozo Ishiuji, Hiroyuki Matsuzaki, Ken-ichi Yasuda, Budiman Kharma, Yoshimasa Nobeyama, Takaaki Hayashi, Yoshiki Tokura, Akihiko Asahina
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 6, p adv00483 (2021)
Externí odkaz:
https://doaj.org/article/c1a39c82072842afabc26ee13fc58bbe
Autor:
Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 13, Iss , Pp 110-115 (2019)
Purpose: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was use
Externí odkaz:
https://doaj.org/article/45bbd6012c0f4156a1a8a1408411f090
Autor:
Keiko Yamaguchi, Takaaki Hayashi, Genichiro Takahashi, Mami Momose, Akihiko Asahina, Tadashi Nakano
Publikováno v:
Case Reports in Ophthalmology, Vol 9, Iss 3, Pp 499-503 (2018)
This report presents details on a 45-year-old male Japanese patient with chronic and refractory anterior uveitis associated with psoriasis vulgaris who was administered certolizumab pegol (CZP), which is an anti-tumor necrosis factor alpha (TNF-α) m
Externí odkaz:
https://doaj.org/article/985de09a9de74d969d8c8f5fc08410be