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Faculty of Medicine School of Medicine Department of Clinical Neuroscience, Neurosurgery |
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Assistant Professor |
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OKUYAMA Hironobu
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Papers 【 display / non-display 】
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Okuyama H., Yokogami K., Yamashita S., Okita Y.
Human Pathology Reports 43 2026.3
Publishing type：Research paper (scientific journal) Publisher：Human Pathology Reports
Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.
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山下 真治, 奥山 洋信, 横上 聖貴, 沖田 典子
Human Pathology Reports 43 300809 2025.12
Language：English Publishing type：Research paper (scientific journal) Publisher：Elsevier BV
Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.
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YAMASHITA Shinji, TOMONAGA Takumi, OKITA Yoshiko, SATO Yuichiro, MATSUMOTO Fumitaka, OKUYAMA Hironobu, OGASAWARA Natsuki, TAMURA Mitsuru, KAWANO Tomoki, YOKOGAMI Kiyotaka, KIWAKI Takumi, FUKUSHIMA Tsuyoshi
NMC Case Report Journal 12 ( 0 ) 369 - 375 2025
Language：English Publishing type：Research paper (scientific journal) Publisher：The Japan Neurosurgical Society
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A Case Report of an Immature Pituitary-Specific Transcription Factor 1 (PIT1)-Lineage Pituitary Neuroendocrine Tumor Along With Its Cytology and Ultrastructural Studies Reviewed
Nobuyuki Oguri , Takako Tokumitsu , Takashi Watanabe , Hironobu Okuyama , Yuichiro Sato
Cureus 16 ( 12 ) 1 - 7 2024.12
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Factors associated with the progression of traumatic intracranial hematoma during interventional radiology to establish hemostasis of extracranial hemorrhagic injury in severe multiple trauma patients. Reviewed
Ochiai H, Abe T, Okuyama H, Nagamine Y, Morisada S, Kanemaru K
Acute medicine & surgery 7 ( 1 ) e580 2020.1