著者
Shojiro Ichimata Yukiko Hata Kojiro Hirota Naoki Nishida
出版者
JAPANESE SOCIETY OF TOXICOLOGIC PATHOLOGY
雑誌
Journal of Toxicologic Pathology (ISSN:09149198)
巻号頁・発行日
vol.35, no.3, pp.255-262, 2022 (Released:2022-07-02)
参考文献数
19
被引用文献数
1

A 32-year-old woman attempted suicide by ingesting Gloriosa bulbs and died approximately 2 days later. Toxicological examination revealed a potentially fatal blood concentration of colchicine (0.096 mg/L). In addition to the increased mitotic figures in the gastrointestinal mucosa, a unique finding for acute colchicine intoxication, pathological examination showed microvesicular lipid droplets in the liver, kidney, heart, and conduction system. Furthermore, central chromatolysis of neurons was observed in the pontine nucleus, medial accessory olivary nucleus, nucleus of the solitary tract, and nucleus ambiguus. Grumose degeneration of the cerebellar dentate nucleus was also evident. These pathological findings may help identify colchicine intoxication, even in the absence of evidence suggesting ingestion during autopsy. Moreover, pathological changes in the heart and central nervous system may be associated with the development of serious complications of acute colchicine intoxication.
著者
Keiichi Hirono Yukiko Hata Makoto Nakazawa Nobuo Momoi Tohru Tsuji Taro Matsuoka Mamoru Ayusawa Yuriko Abe Tamaki Hayashi Nobuyuki Tsujii Tadaaki Abe Heima Sakaguchi Ce Wang Asami Takasaki Shinya Takarada Mako Okabe Nariaki Miyao Hideyuki Nakaoka Keijiro Ibuki Kazuyoshi Saito Sayaka Ozawa Naoki Nishida Neil E. Bowles Fukiko Ichida
出版者
The Japanese Circulation Society
雑誌
Circulation Journal (ISSN:13469843)
巻号頁・発行日
pp.CJ-18-0470, (Released:2018-08-18)
参考文献数
37
被引用文献数
6

Background: Left ventricular non-compaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium and numerous prominent trabeculations, and is often associated with dilated cardiomyopathy (DCM). Variants in the gene encoding tafazzin (TAZ) may change mitochondrial function and cause dysfunction of many organs, but they also contribute to the DCM phenotype in LVNC, and the clinical and echocardiographic features of children with this phenotype are poorly understood. Methods and Results: We enrolled 92 DCM phenotype LVNC patients and performed next-generation sequencing to identify the genetic etiology. Ten TAZ variants were identified in 15 male patients (16.3%) of the 92 patients, including 3 novel missense substitutions. The patients with TAZ variants had a higher frequency of early onset of disease (92.3% vs. 62.3%, P=0.0182), positive family history (73.3% vs. 20.8%, P=0.0001), and higher LV posterior wall thickness Z-score (8.55±2.60 vs. 5.81±2.56, P=0.0103) than those without TAZ variants, although the mortality of both groups was similar. Conclusions: This study provides new insight into the impact of DCM phenotype LVNC and emphasizes the clinical advantages available for LVNC patients with TAZ variants.