著者

Megumi Fukuyama Minoru Horie Koichi Kato Hisaaki Aoki Shuhei Fujita Yoko Yoshida Hisanori Sakazaki Takako Toda Michihiko Ueno Gaku Izumi Nobuo Momoi Jun Muneuchi Takeru Makiyama Yoshihisa Nakagawa Seiko Ohno

出版者

The Japanese Circulation Society

雑誌

Circulation Journal (ISSN:13469843)

巻号頁・発行日

pp.CJ-23-0195, (Released:2023-06-28)

参考文献数

38

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Background: Cardiac calmodulinopathy, characterized by a life-threatening arrhythmia and sudden death in the young, is extremely rare and caused by genes encoding calmodulin, namely calmodulin 1 (CALM1), CALM2, and CALM3.Methods and Results: We screened 195 symptomatic children (age 0–12 years) who were suspected of inherited arrhythmias for 48 candidate genes, using a next-generation sequencer. Ten probands were identified as carrying variants in any of CALM1–3 (5%; median age 5 years), who were initially diagnosed with long QT syndrome (LQTS; n=5), catecholaminergic polymorphic ventricular tachycardia (CPVT; n=3), and overlap syndrome (n=2). Two probands harbored a CALM1 variant and 8 probands harbored 6 CALM2 variants. There were 4 clinical phenotypes: (1) documented lethal arrhythmic events (LAEs): 4 carriers of N98S in CALM1 or CALM2; (2) suspected LAEs: CALM2 p.D96G and D132G carriers experienced syncope and transient cardiopulmonary arrest under emotional stimulation; (3) critical cardiac complication: CALM2 p.D96V and p.E141K carriers showed severe cardiac dysfunction with QTc prolongation; and (4) neurological and developmental disorders: 2 carriers of CALM2 p.E46K showed cardiac phenotypes of CPVT. Beta-blocker therapy was effective in all cases except cardiac dysfunction, especially in combination with flecainide (CPVT-like phenotype) and mexiletine (LQTS-like).Conclusions: Calmodulinopathy patients presented severe cardiac features, and their onset of LAEs was earlier in life, requiring diagnosis and treatment at the earliest age possible.

著者

吉田 陽子 Yoko YOSHIDA

出版者

愛知県立大学大学院国際文化研究科

雑誌

愛知県立大学大学院国際文化研究科論集 = Bulletin of the Graduate School of International Cultural Studies Aichi Prefectural University (ISSN:13454579)

巻号頁・発行日

no.14, pp.111-135, 2013

著者

Yoko Yoshida Hideki Kato Yoichiro Ikeda Masaomi Nangaku

出版者

Japan Atherosclerosis Society

雑誌

Journal of Atherosclerosis and Thrombosis (ISSN:13403478)

巻号頁・発行日

pp.RV17026, (Released:2018-11-02)

参考文献数

98

被引用文献数

52

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Atypical hemolytic uremic syndrome (aHUS) is a type of thrombotic microangiopathy (TMA) defined by thrombocytopenia, microangiopathic hemolytic anemia, and renal failure. aHUS is caused by uncontrolled complement activation in the alternative pathway (AP). A variety of genetic defects in complement-related factors or acquired autoantibodies to the complement regulators have been found in 50 to 60% of all cases. Recently, however, the classification and diagnosis of aHUS are becoming more complicated. One reason for this is that some factors, which have not been regarded as complement-related factors, have been reported as predisposing factors for phenotypic aHUS. Given that genotype is highly correlated with the phenotype of aHUS, careful analysis of underlying genetic abnormalities or acquired factors is needed to predict the prognosis or to decide an optimal treatment for the disease. Another reason is that complement dysregulation in the AP have also been found in a part of other types of TMA such as transplantation-related TMA and pregnancy-related complication. Based on these findings, it is now time to redefine aHUS according to the genetic or acquired background of abnormalities.Here, we review the pathogeneses and the corresponding phenotypes of aHUS and complement-related TMAs.

著者

吉田 陽子 Yoko YOSHIDA

雑誌

愛知県立大学大学院国際文化研究科論集 (ISSN:13454579)

巻号頁・発行日

vol.14, pp.111-135, 2013-03-21 (Released:2013-12-06)

著者

吉田 陽子 Yoko YOSHIDA

雑誌

愛知県立大学大学院国際文化研究科論集 = Bulletin of the Graduate School of International Cultural Studies, Aichi Prefectural University (ISSN:13454579)

巻号頁・発行日

no.14, pp.111-135, 2013-03-21

著者

Ritsuko Yamamoto-Honda Yoshihiko Takahashi Yasumichi Mori Shigeo Yamashita Yoko Yoshida Shoji Kawazu Yasuhiko Iwamoto Hiroshi Kajio Hidekatsu Yanai Shuichi Mishima Nobuhiro Handa Kotaro Shimokawa Akiko Yoshida Hiroki Watanabe Kazuhiko Ohe Takuro Shimbo Mitsuhiko Noda

出版者

(社)日本内分泌学会

雑誌

Endocrine Journal (ISSN:09188959)

巻号頁・発行日

pp.EJ16-0521, (Released:2017-03-18)

被引用文献数

6

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Type 2 diabetes, which is characterized by a combination of decreased insulin secretion and decreased insulin sensitivity, can be delayed or prevented by healthy lifestyle behaviors. Therefore, it is important that the population in general understands their personal risk at an early age to reduce their chances of ever developing the disease. A family history of hypertension is known to be associated with insulin resistance, but the effect of a family history of hypertension on the onset of type 2 diabetes has not well been examined. We performed a retrospective study examining patient age at the time of the diagnosis of type 2 diabetes by analyzing a dataset of 1,299 patients (1,021 men and 278 women) who had been diagnosed as having type 2 diabetes during a health checkup. The mean ± standard deviation of the patient age at the time of the diagnosis of diabetes was 49.1 ± 10.4 years for patients with a family history of hypertension and 51.8 ± 11.4 years for patients without a family history of hypertension (p < 0.001). A multivariate linear regression analysis showed a significant association between a family history of hypertension and a younger age at the time of the diagnosis of type 2 diabetes, independent of a family history of diabetes mellitus and a male sex, suggesting that a positive family history of hypertension might be associated with the accelerated onset of type 2 diabetes.