Objective To explore the feasibility of the application of non fasting blood lipid in the hospitalized population.Methods Self-control study was used.608 patients(aged 20~86 years old) were enrolled from April 2015 to October 2016 in lipid center of FuWai hospital.Fasting sample and non-fasting sample(1~4 h after breakfast) were collected from every patient and lipid profile including TG (triglyceride), TC (total cholesterol), HDL-C (high density lipoprotein cholesterol) and LDL-C (low density lipoprotein cholesterol) were measured in clinical laboratory.The results of two tests were compared using the Wilcoxon signed-rank test.Results The differences between non-fasting and fasting lipid test were +0.47 mmol/l (+30%) for TG,-0.03 mmol/l (-2.8%) for HDL-C,-0.09 mmol/l (-3%) for LDL-C and-0.24 mmol/l (-8.7%) for calculated LDL-C (P<0.001 respectively).The differenceswere +0.01 mmol/l for TC and +0.02 mmol/l for non-HDL-C,therefore no statistical difference was observed.When the TG level was stratified,the level of non-fasting LDL-C using directing test method was not significantly different between TG> 4.5 mmol/L and the whole (0.07 vs.0.09),but the level of non-fasting LDL-C using formula method wassignificantly different between TG> 4.5 mmol/L and the whole (0.66 Vs.0.24),andthe drops were 34.9% vs.8.7%.Conclusion Non-fasting lipid test could be an effective routine method for lipid evaluation in the hospitalized population.

Objective:To evaluate the clinical correlation between the CardioChek PA analyzer (CCPA)and a clinical laboratory reference method to use for screening program purposes.Methods:Fasting blood samples were collected on 325 patients (age:23 -86 years).One venous sample was col-lected using a serum tube for the evaluation on a Beckman reference analyzer.A second venous sample was collected in a lithium heparin tube and was evaluated on the CCPA analyzer.Linear regression analy-ses and Bland-Altman method were performed for each measured analyte:total cholesterol (TC),high density lipoprotein-cholesterol (HDL-C),triglycerides (TG)and low density lipoprotein-cholesterol (LDL-C).Results:Our results demonstrated a good clinical agreement for TC,HDL-C,TG and LDL-C (97.0%,92.9%,92.4% and 83.7%)in comparison with the CCPA to the reference analyzer.The correlation coefficients were 0.875,0.81 3,0.91 0,0.864,respectively.P values all <0.001 .There was no significant difference in the detection rate of hyperlipidemia in TC,HDL-C and LDL-C.Conclu-sion:We have identified the pre-analytic phase as an important step to guarantee the quality of results and indicated that the CCPA is a reliable lipid point-of-care testing system that can be used for the appli-cation of clinical screening anywhere.

italic>Cynanchum wallichii and Cynanchum otophyllum belong to the genus Cynanchum in the family Apocynaceae, and are important medicinal plants. In this study, we sequenced and assembled the chloroplast genomes of C. wallichii and C. otophyllum, and performed a phylogenetic analysis of the structural characteristics of their chloroplast genomes and their phylogenetic positions. The results showed that the chloroplast genomes of both C. wallichii and C. otophyllum had a typical tetrad structure, with 133 genes annotated, and the total GC contents of both were similar. Codon preference analysis showed that the relative synonymous codon usage in the chloroplast genomes of C. wallichii and C. otophyllum differed slightly, but the differences were not significant, and there was a strong A or U preference at the third codon position. In both chloroplast genomes, 91 and 103 simple sequence repeats were detected respectively, and the largest proportion of A/T type repeats. Nucleotide polymorphism analysis showed that the nucleotide diversity of the intergenic sequences in the chloroplast genome of genus Cynanchum were generally higher than those of the common gene sequences. A pair of primers was designed based on the high variation region of the chloroplast genome to identify C. wallichii and C. otophyllum. The phylogenetic analysis showed that the C. wallichii and Cynanchum thesioides were the closest relatives, while the C. otophyllum, Cynanchum bungei and Cynanchum wilfordii formed a stable monophyletic clade within the genus Cynanchum, and the three species were closely related. The comparative analysis of the chloroplast genomic characteristics and phylogeny of C. wallichii and C. otophyllum will provide a theoretical basis for the species identification of the two plants and for the study of genetic diversity and phylogeny of the genus Cynanchum.

Palmatine, the main effective ingredient of Fibraurea recisa, is a typical berberine isoquinoline alkaloid with extensive anti-inflammatory and antibacterial activities. In this work, the studies of metabolomics and transcriptomics were utilized to detect differentially expressed genes (DEGs) that are significantly associated with the synthesis of palmatine. In addition, eight of these DEGs were verified by quantitative real-time PCR (qRT-PCR). A total of 106 alkaloids were detected in the metabolomics study, including 23 isoquinoline alkaloids. Palmatine ranked in the top ten of differential metabolites in the group of root vs leaf, and its relative content in root was about 47.5 times higher than that in leaf. In the transcriptomics study, a total of 188 genes were annotated to the pathway of isoquinoline alkaloid biosynthesis. Among them, there were 36 DEGs were significantly different. In the comparison group of root and leaf, a total of 33 DEGs were significantly different, and 30 DEGs were annotated on the biosynthetic pathway of palmatine. Finally, the results of the correlation analysis between metabolomics and transcriptomics showed that the expression patterns of four gene sequences were screened to be significantly correlated with palmatine. The results of qRT-PCR experiments showed that the expression trends of eight DEGs were consistent with the results of transcriptomic. This study not only enriched the omics data of F. recisa, but also established the foundation for the study of the synthetic biology of palmatine. It further provided a reference for the analysis of the key enzyme genes on the biosynthetic pathway of other isoquinoline alkaloids.

Objective To estimate clinical application of multiplex ligation-dependent probe amplification (MLPA) for rapid prenatal detection of aneuploid abnormalities in amniotic fluid.Methods Totally 1229 amniotic fluid samples were collected from the pregnant women receving prenatal diagnosis for chromosomal abnormalities in Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital from October 2009 to December 2010.All the samples were investigated independently with both MLPA and G-band karyotyping to detect aneuploidies of chromosomes X,Y,13,18 and 21.A comparison was followed the results acquired from two methods for evaluation of sensitivity and specificity of MLPA.ResultsThirtyeight aneuploidies were detected by G-band karyotyping,in which 34 were nonmosaic aneuploidies and 4were mosaic aneuploidies.MLPA and G-band karyotyping had consistent results in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21. Among 4 mosaic aneuploidies detected by G-band karyotyping,2 were confirmed by MLPA independently.Conclusions The sensitivity and specificity of MLPA in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21 were clinically acceptable.MLPA provides an efficient,reliable method for rapid detection of aneuploidies.

Objective: To explore the safety and efficacy of lipoprotein apheresis (LA) in treating the patients with familial hypercholesterolemia (FH).
Methods: A total of 12 FH patients treated in our hospital from 2015-02 to 2016-10 were retrospectively studied. Based on intensive cholesterol lowering therapy with rosuvastatin (10-20) mg Qd and Ezetimibe 10 mg Qd, the patients received LA by double ifltration plasma pheresis (DFPP) via bilateral elbow central vein or femoral vein. The changes of lipid level were compared at before and after LA treatment.
Results: For pre- and immediately after LA treatment, the average total cholesterol (TC) was (9.42±3.65) mmol/L vs (2.84±0.83) mmol/L, low density lipoprotein cholesterol (LDL-C) was (7.31±3.46) mmol/L vs (1.95±0.82) mmol/L; at 1, 3, 7 and 30 days after treatment, TC and LDL-C levels showed increasing trend, while they were still lower than they were before treatment, allP<0.01. For pre- and immediately, 1 day, 3 days after treatment, the average HDL-C level was (0.96±0.31) mmol/L, (0.63±0.17) mmol/L, (0.56±0.15) mmol/L and (0.68±0.22) mmol/L respectively,P<0.05-0.01. For pre- and immediately after LA treatment, the average TG level was (1.90±0.86) mmol/L vs (0.88±0.38) mmol/L,P<0.05. Only 1 patient had the symptoms of hypotension, nausea and sweat, the patient was relieved by expectant treatment.
Conclusion: LA therapy may decrease blood levels of TC and LDL-C at short term in FH patients with good tolerance;even TC and LDL-C could slowly increase after treatment, while combining with lipid lowering therapy, it has been a safe and effective method for treating relevant patients.

A a novel composite ZIF-8/MWCNT was synthesized by combining zeolitic imidazolate framework-8(ZIF-8)with multi-walled carbon nanotubes(MWCNT).The composite was modified on glassy carbon electrode(GCE)to obtain ZIF-8/MWCNT/GCE,which was served as an effective electrochemical sensor for detection of Pb2+ and Cd2+.Benefiting from the high electrical conductivity of MWCNT and the synergistic effect between ZIF-8 and MWCNT,ZIF-8/MWCNT showed excellent electrocatalytic activity in individual and simultaneous detection of Cd2+ and Pb2+.Under the optimized conditions,the linear ranges were 0.03?8.00 μmol/L and 0.03?6.00 μmol/L with corresponding limits of detection(S/N=3)of 0.019 and 0.035 μmol/L for individual detection of Cd2+and Pb2+,respectively.Whereas for simultaneous detection of Cd2+and Pb2+in their mixture solutions,the linear ranges were 0.03?5.00 μmol/L and 0.03?5.00 μmol/L with corresponding limits of detection(S/N=3)of 0.022 and 0.048 μmol/L,respectively.In addition,the sensor exhibited good stability,reproducibility and anti-interference ability.Moreover,the sensor showed good feasibility and accuracy for determination of Cd2+ and Pb2+ in actual river water samples with spiking recoveries of 98.1%?104.0%and 98.3%?102.2%,respectively.

OBJECTIVETo study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

METHODSPCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

RESULTSThe DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.

CONCLUSIONThe E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.

Adult ; Amino Acid Sequence ; Androgen-Insensitivity Syndrome ; genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Receptors, Androgen ; chemistry ; genetics ; Sequence Alignment ; Young Adult

Objective To explore the value of chromosome microarray analysis (CMA) in determining the genetic etiology of fetuses with increased nuchal translucency (NT) but normal karyotype. Methods Amniocentesis, karyotype analysis and CMA were performed to singleton pregnant women with increased fetal NT ( ≥ 3.0 mm) in early pregnancy (11+1-13+6 gestational weeks) at Shenzhen Maternity and Child Healthcare Hospital from March 2015 to December 2017. A total of 339 fetuses with normal G banding karyotype analysis were recruited retrospectively. Peripheral blood samples were collected for CMA in parents whose fetuses were detected with pathogenic copy number variations (CNVs) or variants of uncertain significance (VUS). Descriptive analysis was used for CMA results. Moreover, Pregnancy outcomes and postnatal conditions of fetuses with abnormal CNVs were followed up. Results Pathogenic CNVs, ranging from 68 kb to 12.636 Mb, were detected in 15 out of the 339 fetuses (4.4%) including four microduplications and 11 microdeletions. Among them, there were eight known microdeletion or microduplication syndromes (nine cases) including Williams-Beuren syndrome, 18p deletion syndrome,Wolf-Hirschhorn syndrome, 22q11 duplication syndrome, 16p11.2 deletion syndrome, 17p13.3 duplication syndrome, 16p11.2 duplication syndrome (one case respectively) and DiGeorge syndrome/velocardiofacial syndrome (two cases). Of the 11 fetuses with VUS, five cases originated from parents with normal phenotype and the identified VUS were benign and the rest six were de novo mutations[1.8%(6/339)]. Of the 15 fetuses with pathogenic CNVs, one was lost to follow-up, four were live born and two of which was found to be growth retardation at the age of two. Among the 11 fetuses with VUS, nine were live born and no abnormality was reported in any cases at one year old. Conclusions For fetus with increased NT and normal karyotype, CMA is able to identify chromosomal microdeletion/microduplication that are not recognized by conventional karyotyping analysis, and may play an important role in prenatal diagnosis and genetic counseling.

Objective: To investigate the predictive value of radiomics features based on cardiac magnetic resonance (CMR) cine images for left ventricular adverse remodeling (LVAR) after acute ST-segment elevation myocardial infarction (STEMI). Materials and Methods: We conducted a retrospective, single-center, cohort study involving 244 patients (random-split into 170 and 74 for training and testing, respectively) having an acute STEMI (88.5% males, 57.0 ± 10.3 years of age) who underwent CMR examination at one week and six months after percutaneous coronary intervention. LVAR was defined as a 20% increase in left ventricular end-diastolic volume 6 months after acute STEMI. Radiomics features were extracted from the oneweek CMR cine images using the least absolute shrinkage and selection operator regression (LASSO) analysis. The predictive performance of the selected features was evaluated using receiver operating characteristic curve analysis and the area under the curve (AUC). Results: Nine radiomics features with non-zero coefficients were included in the LASSO regression of the radiomics score (RAD score). Infarct size (odds ratio [OR]: 1.04 (1.00–1.07); P = 0.031) and RAD score (OR: 3.43 (2.34–5.28); P < 0.001) were independent predictors of LVAR. The RAD score predicted LVAR, with an AUC (95% confidence interval [CI]) of 0.82 (0.75–0.89) in the training set and 0.75 (0.62–0.89) in the testing set. Combining the RAD score with infarct size yielded favorable performance in predicting LVAR, with an AUC of 0.84 (0.72–0.95). Moreover, the addition of the RAD score to the left ventricular ejection fraction (LVEF) significantly increased the AUC from 0.68 (0.52–0.84) to 0.82 (0.70–0.93) (P = 0.018), which was also comparable to the prediction provided by the combined microvascular obstruction, infarct size, and LVEF with an AUC of 0.79 (0.65–0.94) (P = 0.727). Conclusion Radiomics analysis using non-contrast cine CMR can predict LVAR after STEMI independently and incrementally to LVEF and may provide an alternative to traditional CMR parameters.