Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Hiroaki Taniguchi, Atsushi Ishida, Yutaka Negishi, Yusuke Aoki, Takeshi Arakawa, Mitsuko Nakashima, Kazushi Yasuda, Kazuya Itomi, Shinji Saitoh, Hirotomo Saitsu, Sachiko Miyamoto
Publikováno v:
Brain and Development. 43:804-808
Introduction SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apn
Autor:
Naomi Kawaoka, Tomoko Asai, Masayuki Imaeda, Shinji Saitoh, Satomi Fukuhara, Taishi Miyachi, Kei Ohashi
Publikováno v:
Journal of Autism and Developmental Disorders
In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined th
Autor:
Sachiko Iwata, Yung Chieh Lin, Shigeharu Nakane, Shin Kato, Shinji Saitoh, Kennosuke Tsuda, Mihoko Mizuno, Osuke Iwata, Masahiro Kinoshita
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports
Scientific Reports
Inappropriate preparation of respiratory gases is associated with serious complications during mechanical ventilation. To develop a temperature monitoring system of respiratory gases within the endotracheal tube, four newborn piglets were studied usi
Autor:
Shogo Ito, Minoru Kokubo, Daisuke Ieda, Kohei Aoyama, Ikumi Hori, Shinji Saitoh, Yuji Nakamura, Seimi Ebe, Kei Ohashi, Ayako Hattori
Publikováno v:
Brain and Development. 43:590-595
Introduction Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants i
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v
Autor:
Kei Ohashi, Takanori Yamagata, Masayuki Imaeda, Satomi Fukuhara, Noriko Miyake, Yoshie Kurokawa, Yoshinori Tsurusaki, Tomoko Asai, Masahide Goto, Naomichi Matsumoto, Shinji Saitoh, Tatsuya Anzai, Taishi Miyachi
Publikováno v:
Journal of Autism and Developmental Disorders. 51:4655-4662
Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparativ
Autor:
Sachiko Iwata, Shin Kato, Tadashi Hisano, Yuko Mizutani, Osuke Iwata, Satoko Fukaya, Yung Chieh Lin, Koya Kawase, Shinji Saitoh, Masahiro Kinoshita
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss, Pp S10-S15 (2021)
Despite the increased survival opportunities for extremely preterm infants, their long-term cognitive outcomes remain poor, with increased incidence of cognitive impairments in childhood and reduced opportunities to attend higher education in young a
Autor:
Akihisa Okumura, Chikako Ogawa, Tetsuo Kubota, Hirokazu Kurahashi, Yuji Ito, Shunsuke Ogaya, Shinji Saitoh, Ayako Hattori, Motomasa Suzuki, Takeshi Tsuji, Naoko Ishihara, Hiroyuki Kidokoro, Jun Natsume, Tatsuya Fukasawa
Publikováno v:
Pediatric Neurology. 109:79-84
Objective To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study design We investigated clinical and diffusion-we
Autor:
Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura
Publikováno v:
Journal of Medical Genetics. 58:505-513
BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear.MethodsWe examined COL4A
Autor:
Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, Takao Togawa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e250-e254
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Target