著者
Kazuhiro SUZUKI Akiko IKEDA Kaori ADACHI Daniel DUNKLEY Etsuko NIU Takenori KATO Shinobu MORI Noriyuki FUJII
出版者
The Japan Academy
雑誌
Proceedings of the Japan Academy, Series B (ISSN:03862208)
巻号頁・発行日
vol.78, no.5, pp.111-116, 2002 (Released:2006-10-17)
参考文献数
15
被引用文献数
1

The Kamimura River, an upper tributary of the Yahagi River, flows through steep valleys in the mountainous Kamiyahagi area of Gifu Prefecture. The Tokai Gou flood of September 11-12, 2000 destroyed embankments along the river, and exposed sedimentary layers at Umi that are typical of a lacustrine depositional setting. This confirms the existence of a paleo-lake from which the name Umi originated. The lake was formed as the result of a huge landslide that dammed up the Kamimura River. To determine when the landslide occurred, radiocarbon (14C) ages of trees buried in lacustrine sediments were determined using accelerator mass spectrometry (AMS). The 14C ages are 300±25, 340±25, 345±25 and 380±25 BP for the outermost rings of tree trunks, which include bark, and a single age of 620±25 BP. Calibrated ages of (1637), (1520, 1590, 1624), (1517, 1597, 1619) and (1482) cal AD within a range of 1455-1643 cal AD are consistent with a landslide triggered by the Tensho Earthquake of January 18, 1586, which had an estimated magnitude of 8.2-8.3 and an epicenter in Ise Bay.
著者
Kazuhiro Ishii Ai Hosaka Kaori Adachi Eiji Nanba Akira Tamaoka
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
vol.49, no.12, pp.1205-1208, 2010 (Released:2010-06-15)
参考文献数
23
被引用文献数
6 9

A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle cerebellar peduncles (MCP). Evidence of premutation in the form of 83 CGG repeats of the Fragile-X-mental retardation 1 (FMR1) gene confirmed the diagnosis of FXTAS. FXTAS causes various neurological symptoms including in some cases tremor resembling essential tremor in the early stages. FMR1 gene premutation should be checked when the patient develops intention tremor, cerebral dysfunction and/or a brain MRI shows MCP lesions.
著者
Tetsuya Okazaki Kaori Adachi Kaori Matsuura Yoshitaka Oyama Madoka Nose Emi Shirahata Toshiaki Abe Takeshi Hasegawa Toshiro Maihara Yoshihiro Maegaki Eiji Nanba
出版者
Tottori University Medical Press
雑誌
Yonago Acta Medica (ISSN:13468049)
巻号頁・発行日
vol.64, no.1, pp.30-33, 2021 (Released:2021-02-22)
参考文献数
13
被引用文献数
4

Background Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown.Methods We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey.Results We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations.Conclusion In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.