Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Akira Kumakura"'
Autor:
Seiichi Tomotaki, Hiroshi Mizumoto, Takayuki Hamabata, Akira Kumakura, Mitsutaka Shiota, Hiroshi Arai, Kazuhiro Haginoya, Daisuke Hata
Publikováno v:
Pediatrics and Neonatology, Vol 57, Iss 6, Pp 522-525 (2016)
We report our experience with a preterm infant with severe hemolytic jaundice who required exchange transfusion just after birth. The patient was negative for alloimmune hemolysis as a result of maternal–fetal blood type incompatibility, and tests
Externí odkaz:
https://doaj.org/article/2d2c6e88da3240938c0f039da17358ed
Autor:
Mari Asaoka, Tetsuhiro Fukuyama, Naohisa Kawamura, Tamami Yano, Takayoshi Kawabata, Kotaro Nakano, Eriko Kikuchi, Tomoyuki Miyamoto, Mika Inoue, Akihisa Okumura, Masato Hiyane, Etsushi Toyofuku, Yuichi Takami, Yusaku Endo, Keiko Tanaka-Taya, Nobuyoshi Sugiyama, Yu Tsuyusaki, Sawa Yasumoto, Keiko Suzuki, Nobuko Moriyama, Takako Fujita, Yasuhiro Suzuki, Eri Takeshita, Hitoshi Mikami, Yuichi Abe, Ryutaro Kira, Chiharu Miyatake, Hiroyuki Torisu, Akira Kumakura, Akane Kanazawa, Tatsuharu Sato, Yuya Takahashi, Hiroshi Terashima, Sonoko Kubota, Genrei Ohta, Mariko Kasai, Yu Ishida, Pin Fee Chong, Noboru Yoshida, Shinichiro Goto, Taira Toki, Ayako Hattori, Wakako Ishii, Kenichi Tanaka, Miho Yamamuro, Sahoko Ono, Yukihiko Konishi, Harushi Mori, Nozomi Koran, Kazuhide Ohta, Kenichi Sakajiri, Michiaki Nagura, Kyoko Ban
Publikováno v:
Pediatric Neurology. 116:14-19
We summarize the long-term motor outcome and disability level in a cluster of pediatric patients with acute flaccid myelitis (AFM) associated with the enterovirus D68 outbreak in 2015.This is a nationwide follow-up questionnaire analysis study. Clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36fde17d9b5b55a851a53dd31a77029
https://doi.org/10.1016/j.pediatrneurol.2020.11.019
https://doi.org/10.1016/j.pediatrneurol.2020.11.019
Autor:
Takanori Yamagata, Masaya Kubota, Jun-ichi Takanashi, Akiko Shibata, Kenjiro Kikuchi, Ichiro Kuki, Masayasu Ohta, Ai Hoshino, Gaku Yamanaka, Akira Kumakura, Sawako Yamazaki, Takashi Shiihara, Akira Oka, Masashi Mizuguchi, Hiroshi Matsumoto, Taku Miyagawa, Mariko Kasai, Shinya Hara
Publikováno v:
Brain and Development. 41:862-869
Objectives Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), are severe with poor out
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ec4e2d3a0874943546b29c9dfb61e8
https://doi.org/10.1016/j.braindev.2019.07.008
https://doi.org/10.1016/j.braindev.2019.07.008
Publikováno v:
Intractable & Rare Diseases Research. 7:245-250
Because biallelic SZT2 variants have been reported in patients with neurodevelopmental disorders associated with various degrees of developmental delay, intractable seizures, and distinctive features; this condition is recognized as an autosomal rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77908d9b886729e40b03cc5613600b13
https://doi.org/10.5582/irdr.2018.01117
https://doi.org/10.5582/irdr.2018.01117
Autor:
Charles Marques Lourenço, Satoko Miyatake, Lock-Hock Ngu, Mitsuhiro Kato, Y. Kumagai, Shuei Watanabe, Eli Heyman, Hirotomo Saitsu, Naomi Tsuchida, Tomohiro Chiyonobu, Naomichi Matsumoto, Akira Kumakura, Gaik-Siew Ch'ng, Hideaki Nakajima, Naama Orenstein, Atsushi Takata, Aviva Fattal-Valevski, Leah S. Cohen, Kazuhiro Haginoya, Masafumi Morimoto, Eri Imagawa, Hadassa Goldberg-Stern, M. Weisz Hubshman, Masaya Kubota, Takehiko Inui, Takeshi Mizuguchi, Mitsuko Nakashima, Daphna Marom, N.A. Yahaya, Shin-ichiro Hamano, Masayasu Ohta, Yuri Uchiyama, Noriko Miyake
Publikováno v:
Clinical Genetics. 93:577-587
Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole exome sequencing (W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489c1618ffa2a786ff1df72687c44dd9
https://doi.org/10.1111/cge.13144
https://doi.org/10.1111/cge.13144
Autor:
Taichi, Imaizumi, Akira, Kumakura, Keiko, Yamamoto-Shimojima, Yumko, Ondo, Toshiyuki, Yamamoto
Publikováno v:
Intractablerare diseases research. 7(4)
Because biallelic SZT2 variants have been reported in patients with neurodevelopmental disorders associated with various degrees of developmental delay, intractable seizures, and distinctive features; this condition is recognized as an autosomal rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f0293641d99ebc824e045d666d3114d
https://pubmed.ncbi.nlm.nih.gov/30560016
https://pubmed.ncbi.nlm.nih.gov/30560016
Autor:
S. Yamazaki, A. Horino, Motoo Kubota, Takashi Shiihara, Akira Kumakura, Y. Takei, Iori Ohmori, T. Kumagai, K. Ohmura, Keiko Tanaka, T. Uchida, Hiroshi Terashima, Masashi Mizuguchi, Madoka Kajimoto, Shinichi Hirabayashi, Y. Tanaka, Katsuhiro Kobayashi, Makiko Saitoh, Mariko Kasai, Takeshi Inoue
Publikováno v:
Journal of the Neurological Sciences. 368:272-276
Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cae2377cf6afae0c838802622620b7f
https://doi.org/10.1016/j.jns.2016.07.040
https://doi.org/10.1016/j.jns.2016.07.040
Publikováno v:
Brain and Development. 36:725-729
Background: Forkhead box G1 gene ( FOXG1 ) mutations and deletions are associated with a congenital variant of Rett syndrome (RTT). Nucleotide alterations of the coding region of FOXG1 have never caused dysmorphic features. Patient: An 8-year-old boy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e8d0924a335b474dab0b16a09c688e
https://doi.org/10.1016/j.braindev.2013.09.006
https://doi.org/10.1016/j.braindev.2013.09.006
Autor:
Junko Takita, Makiko Saitoh, Jun-ichi Takanashi, Kenjiro Kikuchi, Masahiro Kikuchi, Masashi Mizuguchi, Daisuke Nishizawa, Tomohide Goto, Masaya Kubota, Akira Kumakura, Takashi Shiihara, Hideo Yamanouchi, Shinichi Hirose, Gaku Yamanaka, Kazutaka Ikeda, Mayu Shinohara, Mitsuo Toyoshima
Publikováno v:
Neurology. 80:1571-1576
Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood encephalopathy following severe febrile seizures, leaving neurologic sequelae in many patients. However, its pathogenesis remains unclear. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a52996f85863fe8fc98ed59f545e20
https://doi.org/10.1212/wnl.0b013e31828f18d8
https://doi.org/10.1212/wnl.0b013e31828f18d8
Publikováno v:
Braindevelopment. 39(1)
Background SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome. Patients We describe 11- and 4-year-ol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bafc090e56392cda8f6c7b996319a1f7
https://pubmed.ncbi.nlm.nih.gov/27544716
https://pubmed.ncbi.nlm.nih.gov/27544716