Zobrazeno 1 - 10
of 23
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:
Akiko Tamasaki, Ikumi Hori, Masayoshi Oguri, Hiroyuki Yamada, Yoshihiro Maegaki, Shinji Saitoh
Publikováno v:
Yamada Hiroyuki, Tamasaki Akiko, Oguri Masayoshi, et al. Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. EPILEPTIC DISORDERS. 2020. 22(5). 673-677. doi:10.1684/epd.2020.1212
Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman
Publikováno v:
Braindevelopment. 43(4)
Introduction Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders caused by loss of function of maternally expressed UBE3A and paternally expressed contiguous genes on chromosome 15q11-13, respectively. A majority o
Autor:
Mayu Fujikawa, Yurika Numata-Uematsu, Takashi Shiihara, Mitsugu Uematsu, Tomoko Kobayashi, Shinji Saitoh, Ayako Hattori, Noriko Togashi, Kei Ohashi, Shigeo Kure, Yu Aihara
Publikováno v:
Epilepsybehavior : EB. 111
Background Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have a large impact on patients and their families. Improving intellectual ability outcomes using preventive vigabatrin (VGB) treatment has recently been reporte
Autor:
Norihisa Koyama, Yuka Watanabe, Shinji Saitoh, Takahiro Sugiura, Masanori Kouwaki, Mari Sugimoto, Yasuko Togawa
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)
Frontiers in Pediatrics, Vol 7 (2019)
Virus-associated hemophagocytic syndrome (VAHS) in the neonatal period has a high mortality. Although clear diagnostic criteria and treatment methods have not been established, early diagnosis and treatment are critical. However, treatments for VAHS
Autor:
Hitoshi Tajiri, Yasuhiro Wakano, Takeshi Endo, Shinji Saitoh, Tokio Sugiura, Mitsuyoshi Suzuki, Koichi Ito, Yasuhito Tanaka
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 44:566-569
Mother-to-child transmission of the hepatitis B virus (HBV) is a major concern for infected mothers, especially after their first child has become an HBV carrier despite immunoprophylaxis. Eight mothers whose first child had become an HBV carrier des
Autor:
Yoko Nishimura, Tetsuya Okazaki, Masachika Kai, Eiji Nanba, Rika Hiraiwa, Shinji Saitoh, Yoshihiro Maegaki, Yoshiaki Saito, Kaori Adachi
Publikováno v:
Epileptic Disorders. 19:339-344
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-ol
Autor:
Hisamitsu Hayashi, Ken Tanikawa, Hiroyuki Kusuhara, Hiroko Ueda, Koichi Ito, Takeshi Endo, Masayoshi Kage, Tokio Sugiura, Shinji Saitoh, Takao Togawa, Shogo Ito
Publikováno v:
Pediatrics International. 58:506-509
The bile salt export pump is expressed at the canalicular membrane of hepatocytes and mediates biliary excretion of bile salts. 4-Phenylbutyrate (4 PB), a drug used to treat ornithine transcarbamylase deficiency, has been found to increase the hepato
Autor:
Masako Watanabe, Tetsuo Shiohara, Teiichi Onuma, Nobuyuki Izumida, Toshihiko Kinoshita, Tetsumasa Kamei, Katsuya Takeuchi, Masaki Kato, Yoshiro Saito, Michiaki Kubo, Tomohiro Oshima, Shinji Saitoh, Taisei Mushiroda, Mitsutoshi Okazaki, Atsushi Watanabe, Kosuke Kanemoto, Kayoko Saito, Yoshiaki Yamamoto, Takeshi Ozeki, Yukitoshi Takahashi, Hisashi Tanii, Naoki Akamatsu, Takahisa Furuta, Shingo Yasumoto, Naoto Yamada, Yoko Kano, Kotaro Otsuka, Tohru Hoshida, Minoru Hara, Yasushi Shimo, Atsushi Takahashi, Shiro Minami, Toshihiko Fukuchi, Shigenobu Ishida
Publikováno v:
JAMA neurology. 75(7)
IMPORTANCE: Carbamazepine, a commonly used antiepileptic drug, is one of the most common causes of cutaneous adverse drug reactions (cADRs) worldwide. The allele HLA-A*31:01 is reportedly associated with carbamazepine-induced cADRs in Japanese and Eu
Autor:
S. Kato, H. Ueda, N. H. Tsuno, Rika Nagasaki, Shinji Saitoh, Tokio Sugiura, Takenori Kato, Kei Ito, K. Katano, M. Matsuhashi
Publikováno v:
Transfusion Medicine. 25:42-46
SUMMARY Objective To prevent neonatal alloimmune thrombocytopenia due to anti-group A antibody perinatal management was performed. Background We previously reported a case of severe intracranial haemorrhage associated with neonatal alloimmune thrombo