Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Waka Nakata"'
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Autor:
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low
Externí odkaz:
https://doaj.org/article/1d36231f86614acb8ca5b90f72cc25d5
Autor:
Jun Kanzawa, MD, Mitsuru Matsuki, MD, PhD, Shintaro Kano, MD, Akihiro Nakamata, MD, Waka Nakata, MD, PhD, Rieko Furukawa, MD, Katsuhisa Baba, MD, Shigeru Ono, MD, PhD, Harushi Mori, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 6, Pp 2307-2310 (2023)
True thymic hyperplasia is defined as an increase in both the size and weight of the gland, while maintaining a normal microscopic architecture. Massive true thymic hyperplasia is a rare type of hyperplasia that compresses adjacent structures and cau
Externí odkaz:
https://doaj.org/article/5af28f1cac4e4cdc9cd7498bafa2af9a
Autor:
Shintaro Kano, MD, PhD, Mitsuru Matsuki, MD, PhD, Rieko Furukawa, MD, PhD, Waka Nakata, MD, PhD, Hirofumi Oguma, MD, PhD, Akira Gomi, MD, PhD, Harushi Mori, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 1, Pp 405-409 (2023)
Germinoma is a rare CNS germ cell tumor preferentially affecting children and young adults. Intracranial germinomas arise typically in the neurohypophysis and pineal region and occasionally in the basal ganglia and thalamus. Germinomas in the basal g
Externí odkaz:
https://doaj.org/article/616f6275235c4ed58c9dda029ffffc62
Autor:
Harushi Mori, Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano
Publikováno v:
BMJ Neurology Open, Vol 4, Iss 2 (2022)
Background Patients with ornithine transcarbamylase deficiency (OTCD) often present with severe hyperammonaemia. We report a case of osmotic demyelination syndrome (ODS) secondary to the treatment of hyperammonaemia due to OTCD, a disease requiring e
Externí odkaz:
https://doaj.org/article/aa54eaa0d10b4c85af3020678f150c58
Autor:
Taiju Hyuga, Shigeru Nakamura, Kazuya Tanabe, Taro Kubo, Hitomi Niijima, Yuta Kawahara, Waka Nakata, Rieko Furukawa, Mio Sakaguchi, Akira Shimada, Mitsuru Matsuki, Toshiro Niki, Yasunori Kamiyama, Kimihiko Moriya, Hideo Nakai
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 86, Iss , Pp 102472- (2022)
We report a case of a girl with inverted papilloma of the urinary bladder, which was detected by ultrasonographic screening based on the findings of a school medical checkup. The case was an 11-year-old girl. She was diagnosed as having occult hematu
Externí odkaz:
https://doaj.org/article/c0144c0cb8af4557867dc3305cca4d7e
Autor:
Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano, Harushi Mori
Publikováno v:
BMJ Neurology Open. 4:e000354
BackgroundPatients with ornithine transcarbamylase deficiency (OTCD) often present with severe hyperammonaemia. We report a case of osmotic demyelination syndrome (ODS) secondary to the treatment of hyperammonaemia due to OTCD, a disease requiring ea
Autor:
Katsushi Takeshita, Ichiro Kikkawa, Toshinori Aihara, Ryo Sugawara, Rieko Furukawa, Naoya Taki, Waka Nakata, Hideaki Watanabe
Publikováno v:
Journal of Orthopaedic Science. 24:166-169
The ossification center of the femoral head reportedly appears at 7-8 months in 95% infants in the radiographs, but its appearance often delays in Japanese normal infants. The purpose of this study was to survey the age at appearance of the femoral h
Autor:
Tetsuo Sonomura, Eisuke Katsuda, Hiroshi Honda, Tatsuya Gomi, Hisami Yanagita, Taro Shimono, Megumi Kuchiki, Hisashi Kamiya, Shunichi Sadaoka, Masako Kataoka, Misugi Urano, Nami Yamashita, Mitsuhiro Tozaki, Waka Nakata, Makoto Kubo, Hidetaka Yamamoto, Hidetake Yabuuchi, Fumi Kato, Miwako Nozaki, Takeshi Kamitani, Toshiko Yamano, Nobuyuki Shiragami, Ken Yamaguchi, Motoi Shiotani, Yoshihide Kanemaki, Hirokazu Saigusa, Takuro Horikoshi, Maki Amano, Waka Mizukoshi
Publikováno v:
European Journal of Radiology. 110:130-135
Purpose To evaluate the effect of the menstrual cycle on BPE and cancer detectability in an Asian population. Material and methods 266 premenopausal patients with regular menstrual cycles from 24 centers were included, and 176 of them were diagnosed
Publikováno v:
RadioGraphics. 40:1200-1200
The biceps pulley or "sling" is a capsuloligamentous complex that acts to stabilize the long head of the biceps tendon in the bicipital groove. The pulley complex is composed of the superior glenohumeral ligament, the coracohumeral ligament, and the
Autor:
Takanori Yamagata, Hiroyuki Betsui, Takahiro Kanai, Rieko Furukawa, Waka Nakata, Jun Aoyagi, Jun Odaka, Takane Ito, Takashi Saito
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 60(2)
The utility of non-enhanced magnetic resonance imaging (MRI) has not been examined extensively for diagnosing acute pyelonephritis (APN) in children. The aims of this study were to compare non-enhanced MRI with technetium-99 m dimercaptosuccinic acid