小児科学講座 - 自治医科大学

研究分野

ライフサイエンス / 神経科学一般 /

論文

Severe Acute Respiratory Syndrome Coronavirus 2 Omicron Variant Kinetics in Natural Infection: A Case Study

Daisuke TAMURA Hirokazu YAMAGİSHİ Kiri KOSHU Toshihiro TAJİMA Hiroshi OSAKA

Turkish Journal of Internal Medicine 2024年1月

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

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

Scientific reports 14(1) 440-440 2024年1月

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 levels...

The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19

Koyuru Kurane Keizo Wakae Hirokazu Yamagishi Yuta Kawahara Marika Ono Daisuke Tamura Kaito Furuya Naoyuki Taga Mitsuru Matsuki Takanori Yamagata Kazuhiro Muramatsu

Brain and Development 2023年9月

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.

Kiri Koshu Kazuhiro Muramatsu Tomomi Maru Yoshie Kurokawa Yoshitaka Mizobe Hirokazu Yamagishi Daisuke Matsubara Koji Yokoyama Eriko Jimbo Hideki Kumagai Yukihiro Sanada Yasunaru Sakuma Noriyoshi Fukushima Aya Narita Takanori Yamagata Hitoshi Osaka

Brain & development 45(9) 517-522 2023年7月

BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute liver failure and sometimes need liver transplantation (LT), and 7% reportedly develop i...

小児COVID-19の急性脳症

若江惠三田村大輔北村薫村松一洋福田真也小野真里花倉根超山岸裕和古屋開土永野達也多賀直行山形崇倫田島敏広小坂仁

NEUROINFECTION 28(1) 64-70 2023年7月

Corona virus infectious disease, emerged in 2019(COVID-19)は、流行の主体が感染性の高いオミクロン変異株に置き換わり小児の感染者数が増加し、けいれん、意識障害、脳炎・脳症例も増加し、重症化する症例や後遺症を残す症例も報告されている。われわれが経験した小児COVID-19の出血性ショック脳症症候群や、片側けいれん・片麻痺・てんかん症候群を含む3症例の急性脳症を提示する。小児COVID-19の急性脳症はインフルエンザ脳症と同様、さまざまな...