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Heart failure (HF) is a severe or advanced stage of heart disease with high mortality and readmission rates. The detection of biomarkers plays an important role in the diagnosis, treatment and clinical management of HF. In addition to the traditional biomarkers, the non-coding RNA markers such as miRNA, circRNA, and lncRNA have also shown better future applications in the diagnosis and differential diagnosis of HF, the severity and prognosis assessment, the risk assessment of cardiovascular events after discharge in patients with HF. These biomarkers will also contribute to personalized clinical management of HF.
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Objective To investigate how to improve test quality by monitoring and analyzing 15 clinical laboratory quality indicators from the National Health and Family Planning Commission .Methods Data were collected from clinical laboratory department of the First Affiliated Hospital of Kunming Medical University between January 2011 and August 2015.15 quality indicators were analyzed retrospectively , including the error rate of specimen type , the coefficient variation unqualified rate of internal quality control test, the reporting rate of critical value , et al.Results The monitoring results of quality indicators basically satisfied the quality goals , except that the median of turn around time in pre-analytical phase was not established, routine internal quality control was not conducted in some laboratory tests in analytical phase and the reporting rate and reporting timely rate of critical value should be further improved in post -analytical phase .Conclusion Medical laboratory quality system can be continuously improved by means of setting up the quality goals of 15 quality indicators referring to sub-specialty and laboratory tests , as well as automated monitoring, statistics and analysis in LIS.
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<p><b>OBJECTIVE</b>To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism.</p><p><b>METHODS</b>G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR).</p><p><b>RESULTS</b>No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH.</p><p><b>CONCLUSION</b>Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.</p>