Search Results - "Ikeda, Azusa"

Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan by Ikeda, Azusa, Tsuji, Megumi, Goto, Tomohide, Iai, Mizue

“…Non-invasive positive pressure ventilation (NPPV) in children has recently increased worldwide and is used not only for neuromuscular diseases but for various…”
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Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation by Ikeda, Azusa, Ueda, Hideaki, Matsui, Kiyoshi, Iai, Mizue, Goto, Tomohide

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Effect of total callosotomy on KCNQ2-related intractable epilepsy by Yamamoto, Ayako, Saito, Yoshiaki, Oyama, Yoshitaka, Watanabe, Yoshihiro, Ikeda, Azusa, Takayama, Rumiko, Ikeda, Hiroko, Takeshita, Saoko, Takumi, Ichiro, Itai, Toshiyuki, Miyatake, Satoko, Matsumoto, Naomichi

“…To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. Our patient was a 10-year-old girl who had developed epilepsy during the…”
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Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report by Minami, Sakura, Ikeda, Azusa, Yamada, Kaori, Kajihama, Aya, Shimizu, Hiroyuki, Nagafuchi, Hiroyuki

“…Malignant hyperthermia is an extremely dangerous condition that can occur with exposure to volatile inhalant anesthetics and depolarizing muscle relaxants, and…”
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MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature by Ikeda, Azusa, Watanabe, Yoshihiro, Kaba, Hikari, Kaneko, Kimihiko, Takahashi, Toshiyuki, Takeshita, Saoko

“…Myelin oligodendrocyte glycoprotein antibodies (MOG Abs) are frequently detected in pediatric acquired demyelinating syndrome (ADS), and MOG-Ab-positive ADS…”
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Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan by Ikeda, Azusa, Kumaki, Tatsuro, Tsuyusaki, Yu, Tsuji, Megumi, Enomoto, Yumi, Fujita, Atsushi, Saitsu, Hirotomo, Matsumoto, Naomichi, Kurosawa, Kenji, Goto, Tomohide

“…Hereditary spastic paraplegias (HSPs) are a set of heterogeneous neurodegenerative disorders characterized by bilateral lower limb spasticity. They may present…”
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Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy by Takeshita, Saoko, Saito, Yoshiaki, Oyama, Yoshitaka, Watanabe, Yoshihiro, Ikeda, Azusa, Iai, Mizue, Sato, Takatoshi, Ishigaki, Keiko, Ito, Shu-ichi

“…Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or…”
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Clinical diversity caused by novel IGHMBP2 variants by Yuan, Jun-Hui, Hashiguchi, Akihiro, Yoshimura, Akiko, Yaguchi, Hiroshi, Tsuzaki, Koji, Ikeda, Azusa, Wada-Isoe, Kenji, Ando, Masahiro, Nakamura, Tomonori, Higuchi, Yujiro, Hiramatsu, Yu, Okamoto, Yuji, Takashima, Hiroshi

“…Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with…”
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Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1 by Ikeda, Azusa, Yamashita, Sumimasa, Tsuyusaki, Yu, Tanaka, Mio, Tanaka, Yukichi, Hashiguchi, Akihiro, Takashima, Hiroshi, Goto, Tomohide

“…Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal…”
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Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature by Ikeda, Azusa, Yamamoto, Ayako, Ichikawa, Kazushi, Tsuyusaki, Yu, Tsuji, Megumi, Iai, Mizue, Enomoto, Yumi, Murakami, Hiroaki, Kurosawa, Kenji, Miyatake, Satoko, Matsumoto, Naomichi, Goto, Tomohide

“…Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the SLC9A6 gene. Clinical features of CS include an inability to speak,…”
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Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant by Kuroda, Yukiko, Ikeda, Azusa, Naruto, Takuya, Kurosawa, Kenji

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The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant by Ikeda, Azusa, Nagafuchi, Hiroyuki, Enomoto, Yumi, Kurosawa, Kenji, Tsuyusaki, Yu, Tsuji, Megumi, Goto, Tomohide

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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy by Tsuji, Megumi, Ikeda, Azusa, Tsuyusaki, Yu, Iai, Mizue, Kurosawa, Kenji, Kosaki, Kenjiro, Goto, Tomohide

“…Variants in the GNB1 gene, which encodes the β1 subunit of a trimeric G protein, can cause moderate to severe psychomotor retardation. Acute encephalopathies…”
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Elevation of brain gamma‐aminobutyric acid levels is associated with vigabatrin‐associated brain abnormalities on magnetic resonance imaging by Ikeda, Azusa, Tomiyasu, Moyoko, Yamamoto, Ayako, Tsuyusaki, Yu, Kawai, Yasuhiro, Tanabe, Masahiko, Tsuji, Megumi, Iai, Mizue, Aida, Noriko, Goto, Tomohide

“…Vigabatrin (VGB) is an effective antiseizure medication for West syndrome. It works by irreversibly inhibiting gamma-aminobutyric acid (GABA) transaminase and…”
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Stimulation of dopamine D2‐like receptors in the lumbosacral defaecation centre causes propulsive colorectal contractions in rats by Naitou, Kiyotada, Nakamori, Hiroyuki, Shiina, Takahiko, Ikeda, Azusa, Nozue, Yuuta, Sano, Yuuki, Yokoyama, Takuya, Yamamoto, Yoshio, Yamada, Akihiro, Akimoto, Nozomi, Furue, Hidemasa, Shimizu, Yasutake

“…Key points The pathophysiological roles of the CNS in bowel dysfunction in patients with irritable bowel syndrome and Parkinson's disease remain obscure. In…”
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Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes by Nishimura, Naoto, Enomoto, Yumi, Kumaki, Tatsuro, Murakami, Hiroaki, Ikeda, Azusa, Goto, Tomohide, Kurosawa, Kenji

“…Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These…”
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P-37: Study of the Ergonomics Requirement for Color Difference in Electronic Displays by Hisatake, Yuzo, Ikeda, Azusa, Ito, Hideki, Obi, Masaki, Kawata, Yasushi, Murayama, Akio

“…We have studied the dependency on color chroma and hue for allowable and optimal levels to color difference. The deeper the chroma, the wider the areas of…”
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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy by Tsuji, Megumi, Ikeda, Azusa, Tsuyusaki, Yu, Iai, Mizue, Kurosawa, Kenji, Kosaki, Kenjiro, Goto, Tomohide

“…INTRODUCTIONVariants in the GNB1 gene, which encodes the β1 subunit of a trimeric G protein, can cause moderate to severe psychomotor retardation. Acute…”
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Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes by Nishimura, Naoto, Enomoto, Yumi, Kumaki, Tatsuro, Murakami, Hiroaki, Ikeda, Azusa, Goto, Tomohide, Kurosawa, Kenji

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