Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yuri Chikumaru"'
Autor:
Noriko Aida, Kazuyo Saito, Yoshiaki Saito, Yuri Chikumaru, Kenji Kurosawa, Akira Matsui, Kaori Kaneko, Yoshikazu Kuroki, Kaori Masuko, Hiroko Iwamoto, Seiji Kimura
Publikováno v:
Brain and Development. 28:34-38
Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance
Autor:
Akira Matsui, Kazuyo Saito, Kaori Kaneko, Ayako Muto, Seiji Kimura, Yoshiaki Saito, Yuri Chikumaru, Kaori Masuko, Hiroko Iwamoto
Publikováno v:
Brain and Development. 27:598-601
We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some oc
Autor:
Shizuko Matsuoka, Kazuyo Saito, Yoshiaki Saito, Masaharu Hayashi, Kaori Kaneko, Seiji Kimura, Makoto Shibuya, Yuri Chikumaru, Akira Matsui
Publikováno v:
Acta Neuropathologica. 110:77-83
We report the autopsy case of a 40-year-old woman with severe intellectual and motor disabilities, who showed calcification in the cerebellum and pons but not in the basal ganglia on CT scan, and died of intracranial hemorrhage due to intractable hyp
Autor:
Yoshiaki, Saito, Kaori, Masuko, Kaori, Kaneko, Kazuyo, Saito, Yuri, Chikumaru, Hiroko, Iwamoto, Akira, Matsui, Seiji, Kimura
Publikováno v:
No to hattatsu = Brain and development. 37(5)
We report the case of a 2-year-old boy who experienced total asphyxia at 4 months of age, and suffered abnormalities at specific phases of the respiratory cycle. The patient was bedridden due to severe tetraplegia and showed little response to extern