15 research outputs found

    Evaluation of body composition monitoring for assessment of nutritional status in hemodialysis patients

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    Background: Body composition monitoring is the only clinically available method for distinguishing among the three body components. This study aimed to determine the relationship between body composition and all-cause mortality in Chinese hemodialysis patients and examine whether the lean tissue index (LTI) derived from body composition monitoring can accurately diagnose malnourished patients. Methods: Hemodialysis patients (n = 123) with nutritional and body composition assessment records in 2015 were examined. Body composition was assessed using a body composition monitor machine. Results: Fifty-seven patients (46.3%) had low LTI (LTI less than the 10th percentile of the respective normal distribution). Significant differences in the fat tissue index (FTI) were observed, with the low LTI group having a higher FTI (10.8 kg/m2 vs. 9.0 kg/m2, p= .007). The kappa coefficient of agreement between LTI and subjective global assessment (SGA) was 0.26 for the presence of malnutrition. During the mean observation period of 26.7 months, 20 of 123 (16.3%) patients died. Low LTI remained highly predictive of survival in the Cox regression analysis (hazard ratio: 3.24, 95% confidence interval 1.06–9.91, p= .04). Malnourishment defined by SGA predicted survival in the Kaplan–Meier analysis (log-rank χ2=4.05; p= .04) but not in the multivariate analysis. Conclusions: LTI is a predictor of mortality, and its predictive power was not affected when FTI, SGA, and hydration status were included in the multivariate analysis. However, SGA may not be adequate to identify patients at a risk of death among Chinese hemodialysis patients

    Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

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    Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES) using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC

    Centrosomal Protein 70 Is a Mediator of Paclitaxel Sensitivity

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    Centrosome aberrations have been implicated in the development and progression of breast cancer. Our previous worked show that centrosomal protein 70 (Cep70) regulates breast cancer growth and metastasis. However, it remains elusive whether Cep70 is implicated in the sensitivity of the anti-microtubule drug paclitaxel in breast cancer. Here we provide evidence that Cep70 is a mediator of paclitaxel sensitivity in breast cancer. Cell proliferation assays show that Cep70 expression correlates with paclitaxel sensitivity in breast cancer cell lines. In addition, paclitaxel sensitivity varies when altering Cep70 expression level. Mechanistic studies reveal that Cep70 interacts with tubulin, and promotes the ability of paclitaxel to stimulate microtubule assembly. These data demonstrate that Cep70 mediates paclitaxel sensitivity in breast cancer
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