著者

Takashi IWAMA Katsuhiro MIZUTANI Hajime KUBO Masahiro KATSUMATA Takenori AKIYAMA Masahiro TODA

出版者

The Japan Neurosurgical Society

雑誌

NMC Case Report Journal (ISSN:21884226)

巻号頁・発行日

vol.10, pp.125-130, 2023-12-31 (Released:2023-05-17)

参考文献数

11

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Patients with neurofibromatosis type 1 not only have characteristic skin findings but are also known to have vascular disorders due to vascular vulnerability. A 44-year-old man with previously undiagnosed neurofibromatosis type 1 was brought to the emergency room due to a sudden subcutaneous hematoma with no history of trauma. Angiography revealed extravasation from the parietal branch of the right superficial temporal artery, which was embolized with n-butyl-2-cyanoacrylate. However, the next day, the patient exhibited an increased subcutaneous hematoma, and new extravascular leakage was detected at the frontal branch of the superficial temporal artery, which was also embolized with n-butyl-2-cyanoacrylate. The patient had physical findings characteristic of neurofibromatosis type 1, such as café-au-lait spots, and was subsequently diagnosed with neurofibromatosis type 1. No obvious neurofibroma or any other subcutaneous lesion associated with neurofibromatosis type 1 was identified in the affected area. Massive idiopathic arterial bleeding in the scalp, although infrequent, can be fatal. Neurofibromatosis type 1 should be considered when a subcutaneous scalp hematoma is observed without a history of trauma, even if the facial skin structure appears normal. Neurofibromatosis type 1 is also known to have multiple sources of hemorrhage. Thus, it is important to repeatedly evaluate vascular structures via cerebral angiography, contrast-enhanced computed tomography, and magnetic resonance imaging, if necessary.

著者

Sei Harada Miho Iida Naoko Miyagawa Aya Hirata Kazuyo Kuwabara Minako Matsumoto Tomonori Okamura Shun Edagawa Yoko Kawada Atsuko Miyake Ryota Toki Miki Akiyama Atsuki Kawai Daisuke Sugiyama Yasunori Sato Ryo Takemura Kota Fukai Yoshiki Ishibashi Suzuka Kato Ayako Kurihara Mizuki Sata Takuma Shibuki Ayano Takeuchi Shun Kohsaka Mitsuaki Sawano Satoshi Shoji Yoshikane Izawa Masahiro Katsumata Koichi Oki Shinichi Takahashi Tsubasa Takizawa Hiroshi Maruya Yuji Nishiwaki Ryo Kawasaki Akiyoshi Hirayama Takamasa Ishikawa Rintaro Saito Asako Sato Tomoyoshi Soga Masahiro Sugimoto Masaru Tomita Shohei Komaki Hideki Ohmomo Kanako Ono Yayoi Otsuka-Yamasaki Atsushi Shimizu Yoichi Sutoh Atsushi Hozawa Kengo Kinoshita Seizo Koshiba Kazuki Kumada Soichi Ogishima Mika Sakurai-Yageta Gen Tamiya Toru Takebayashi

出版者

Japan Epidemiological Association

雑誌

Journal of Epidemiology (ISSN:09175040)

巻号頁・発行日

pp.JE20230192, (Released:2024-01-06)

参考文献数

40

被引用文献数

1

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The Tsuruoka Metabolomics Cohort Study (TMCS) is an ongoing population-based cohort study being conducted in the rural area of Yamagata Prefecture, Japan. This study aimed to enhance the precision prevention of multi-factorial, complex diseases, including non-communicable and aging-associated diseases, by improving risk stratification and prediction measures. At baseline, 11,002 participants aged 35–74 years were recruited in Tsuruoka City, Yamagata Prefecture, Japan, between 2012 and 2015, with an ongoing follow-up survey. Participants underwent various measurements, examinations, tests, and questionnaires on their health, lifestyle, and social factors. This study used an integrative approach with deep molecular profiling to identify potential biomarkers linked to phenotypes that underpin disease pathophysiology and provide better mechanistic insights into social health determinants. The TMCS incorporates multi-omics data, including genetic and metabolomic analyses of 10,933 participants and comprehensive data collection ranging from physical, psychological, behavioral, and social to biological data. The metabolome is used as a phenotypic probe because it is sensitive to changes in physiological and external conditions. The TMCS focuses on collecting outcomes for cardiovascular disease, cancer incidence and mortality, disability, functional decline due to aging and disease sequelae, and the variation in health status within the body represented by omics analysis that lies between exposure and disease. It contains several sub-studies on aging, heated tobacco products, and women's health. This study is notable for its robust design, high participation rate (89%), and long-term repeated surveys. Moreover, it contributes to precision prevention in Japan and East Asia as a well-established multi-omics platform.