著者

Jie Wang Weihao Li Yuchi Han Yucheng Chen

出版者

International Heart Journal Association

雑誌

International Heart Journal (ISSN:13492365)

巻号頁・発行日

pp.18-167, (Released:2019-02-08)

参考文献数

23

被引用文献数

11

---

This case report demonstrates a pair of monozygotic twins with hypertrophic cardiomyopathy (HCM) carrying the same pathogenic mutation of MYH7 (p.G768R; c.2302G>A), detected by whole exome and Sanger genetic sequencing methods. On multi-modality imaging, they were reported to have similar, but not identical, morphologic expression. Particularly, the clinical presentation and tissue characteristics were not the same. Late gadolinium enhancement (LGE) and T1 mapping of cardiac magnetic resonance showed different extents of myocardial fibrotic characteristics in the twins (twin A: 16.3% LGE and 32.6% extracellular volume [ECV] of the whole left ventricle; twin B: 5.4% LGE and 28.1% ECV of the whole left ventricle). This extraordinary case of HCM provides evidence on the complex pathophysiological mechanisms of HCM and suggests the likely impact of epigenetics and environmental factors on HCM phenotype.

著者

Ke Wan Jiayu Sun Yuchi Han Hong Liu Dan Yang Weihao Li Jie Wang Wei Cheng Qing Zhang Zhi Zeng Yucheng Chen

出版者

日本循環器学会

雑誌

Circulation Journal (ISSN:13469843)

巻号頁・発行日

pp.CJ-17-0464, (Released:2017-11-02)

参考文献数

32

被引用文献数

14

---

Background:Late gadolinium enhancement (LGE) pattern is a powerful imaging biomarker for prognosis of cardiac amyloidosis. It is unknown if the query amyloid late enhancement (QALE) score in light-chain (AL) amyloidosis could provide increased prognostic value compared with LGE pattern.Methods and Results:Seventy-eight consecutive patients with AL amyloidosis underwent contrast-enhanced cardiovascular magnetic resonance imaging. Patients with cardiac involvement were grouped by LGE pattern and analyzed using QALE score. Receiver operating characteristic curve was used to identify the optimal cut-off for QALE score in predicting all-cause mortality. Survival of these patients was analyzed with the Kaplan-Meier method and multivariate Cox regression. During a median follow-up of 34 months, 53 of 78 patients died. The optimal cut-off for QALE score to predict mortality at 12-month follow-up was 9.0. On multivariate Cox analysis, QALE score ≥9 (HR, 5.997; 95% CI: 2.665–13.497; P<0.001) and log N-terminal pro-brain natriuretic peptide (HR, 1.525; 95% CI: 1.112–2.092; P=0.009) were the only 2 independent predictors of all-cause mortality. On Kaplan-Meier analysis, patients with subendocardial LGE can be further risk stratified using QALE score ≥9.Conclusions:The QALE scoring system provides powerful independent prognostic value in AL cardiac amyloidosis. QALE score ≥9 has added value to differentiate prognosis in AL amyloidosis patients with a subendocardial LGE pattern.

著者

Jie WANG Xinliang LI Yongyi GAN Tianxing FAN Jing YANG Fang RAO Jianbo YANG

出版者

Center for Academic Publications Japan

雑誌

Journal of Nutritional Science and Vitaminology (ISSN:03014800)

巻号頁・発行日

vol.68, no.3, pp.181-188, 2022-06-30 (Released:2022-06-30)

参考文献数

57

被引用文献数

1

---

We aimed to assess the difference and agreement between the CL-series Vitamin D Total assay (Mindray), which was a kind of chemiluminescent immunoassay (CLIA) and liquid chromatography–tandem mass spectrometry (LC-MS/MS) in the measurement of serum 25-hydroxyvitamin D [25(OH)D] concentrations in children. We compared the 25(OH)D concentrations of 92 children using the CLIA and LC-MS/MS. Paired samples t-test was used to compare the two groups. Linear regression was used to show the correlation between CLIA and LC-MS/MS. The difference and bias between 2 methods were revealed in Bland-Altman plot. Agreement in classification of deficiency between CLIA and LC-MS/MS was assessed using Cohen’s Kappa. p value<0.05 was considered statistically significant. Using Shapiro-Wilk Test to assess whether the data follows a normal distribution. Using 95% children’s serum 25(OH)D concentrations by LC-MS/MS as the reference interval. The regression equation was CLIA=1.185×LC-MS/MS−3.328. The fitness adjusted r2 was 0.589. The CLIA showed positive bias compared to LC-MS/MS, p<0.05, bias=(1.94±16.56) ng/mL. Cohen’s Kappa=0.53, p<0.001. The agreement of 2 methods in diagnosing “deficiency” was good. According to Shapiro-Wilk Test, the data followed a normal distribution (W=0.99). The reference interval of children’s serum 25(OH)D concentrations by LC-MS/MS was 11.35–44.57 ng/mL. In measuring 25(OH)D concentration of children, CLIA represented higher levels than LC-MS/MS. The two methods were consistent in diagnosing vitamin D deficiency. The reference interval of children’s serum 25(OH)D concentrations by LC-MS/MS was 11.35–44.57 ng/mL in our area in summer.