[Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing.]

OBJECTIVES: To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy （HCM） on whole exome level. METHODS: Whole exome sequencing （WES） was been performed on a sudden death case sample with pathological features of HCM by Illumina® Hiseq 2500 platform. Using hg19 as the reference sequences, the sequencing data were analyzed. Suspicious single nucleotide variants （SNV） were screened, and the conservatism and function were analyzed by the software such as PhyloP, PolyPhen-2, SIFT, etc. RESULTS: After screening, a heterozygous mutation C719R was finally identified in the gene MYBPC3 of this case. CONCLUSIONS: The molecular anatomy on whole exome level by second generation sequencing technology can help to define the molecular mechanism of HCM and provide a new mothed and thought for analysis of death cause.

Association of IL-4 promoter polymorphisms with asthma: a meta-analysis.

This study aimed to more precisely assess the correlation between interleukin-4 (IL-4) promoter polymorphisms and the susceptibility risk of asthma. We conducted association studies on IL-4 promoter C-33T, C-589T, and G-1098T polymorphisms with asthma using data obtained from MEDLINE up to September 2011. Results showed that the polymorphisms IL-4 C-33T and C-589T were significantly associated with asthma; however, significant associations were found only in the European population. In addition, the TT+CT genotype was significantly associated with asthma in adults and no significant association was found in asthma status subgroup analyses. This meta-analysis showed that IL-4 C-589T and C-33T were associated with asthma in Europeans. To further confirm correlations between polymorphisms of the IL-4 promoter with asthma susceptibility, studies involving a larger number of patients worldwide are necessary.

Efficient inhibition of cisplatin-resistant human ovarian cancer growth and prolonged survival by gene transferred vesicular stomatitis virus matrix protein in nude mice.

BACKGROUND: The vesicular stomatitis virus matrix protein (VSVMP) has been receiving attention as an anticancer agent because of its ability of inducing apoptosis. MATERIALS AND METHODS: Nude mice bearing A2780s and A2780cp ovarian tumors were treated twice weekly with i.v. administration of 50 microg VSVMP/250 mug liposome complex, 50 microg empty plasmid/250 microg liposome complex, 0.9% NaCl solution or weekly with i.p. administration of cisplatin (5 mg/kg) for 3 weeks. Tumor volume and survival time were observed. TUNEL assay and CD34 vessel staining were conducted in tumor tissue. Antiangiogenesis in vivo were determined by sponge assay. Antiproliferative and apoptosis-inducing activities of VSVMP in vitro were tested on MS1 murine endothelial cells and four human ovarian cancer cell lines: A2780s, A2780cp, HO8910 and COC1. RESULTS: Administration of VSVMP resulted in significant inhibition (87%-98% maximum inhibition relative to controls) in the growth of A2780s and A2780cp tumor xenografts, and prolonged the survival of the treated mice. Complete tumor regression happened in VSVMP-treated mice in both tumor models. These antitumor responses were associated with marked increases in tumor apoptosis and reductions in intratumoral microvessel density. CONCLUSIONS: Our data indicate that VSVMP may provide an effective approach to inhibit both cisplatin-sensitive and -resistant human ovarian cancer growth with minimal side-effects.

Audit of hypertension in general practice.

An audit of hypertension management was done in October 2004 in nine general practice (GP) clinics. Two structure, ten process and two outcome indicators were assessed. Results showed that targets were achieved in only four indicators, i.e., weight recording (89%), BP monitoring (85.8%), follow-up interval not exceeding 6 months (87.9%) and mean diastolic BP (73.9%). The other indicators (hypertension registry, reminder mechanisms for defaulters, recording of smoking, height, fundoscopy, monitoring of lipid profile, blood sugar, ECG, renal function and achievement of target mean systolic pressure) showed adequacy percentages varying from 22.1 to 68.7. Out of the 1260 patients assessed, 743 (59%) achieved a mean BP < or = 140/90 (or < or = 130/80 mmHg with diabetes mellitus / renal insufficiency) in the last 3 recorded readings. There was a vast difference between individual clinics. Reasons for not achieving targets were discussed and remedial measures for implementation were recommended.

Production of a biopolymer flocculant from Bacillus licheniformis and its flocculation properties.

Bacillus licheniformis CCRC 12826 produced extracellularly an excellent biopolymer flocculant in a large amount when it was grown aerobically in a culture medium containing citric acid, glutamic acid and glycerol as carbon sources. The biopolymer flocculant was an extremely viscous material with a molecular weight over 2 x 10(6) by gel permeation chromatography. It could be easily purified from the culture medium by ethanol precipitation. It was shown to be a homopolymer of glutamic acid by amino acid analysis and thin layer chromatography and presumed to be poly-glutamic acid (PGA). This bioflocculant efficiently flocculated various organic and inorganic suspensions. It flocculated a suspended kaolin suspension without cations, although its flocculating activity was synergistically stimulated by the addition of bivalent or trivalent cations Ca2+, Fe3+ and Al3+. However, the synergistic effects of metal cations were most effective at neutral pH ranges. The comparison of the flocculating activity between the present biopolymer and a commercial lower molecular weight product showed that the biopolymer of the present study had much higher activity. The high productivity and versatile applications of PGA make its development as a new biodegradable, harmless, biopolymer flocculant economical and advantageous.

A perfume odour-sensing system using an array of piezoelectric crystal sensors with plasticized PVC coatings.

Using PVC polymer as membrane matrix and di-n-octylphenyl phosphate (DOPP) as plasticizer, a piezoelectric crystal sensor (PCS) array with 12 adsorptive materials selected from 68 compounds by cluster analysis has been constructed as a perfume odour-sensing system. The frequency shift data obtained from the sensor array responding to four commercial perfume odours are first autoscaled and then treated by principal component analysis. The experimental results show that the plasticized PVC membrane PCS array provides improved performance of pattern recognition compared with the single adsorptive coating PCS array. The frequency shift response characteristics of these sensors have been investigated experimentally. The proposed sensor array has also been applied to the classification of commercial spirituous liquor, wine and soft drink samples, as well as aliphatic alcohol homologues and isomers.

[CT morphology of hepatocellular carcinoma lesions].

The preoperative CT appearances of hepatocellular carcinoma (HCC) lesions in 232 cases were analyzed. According to the CT features in shape, outline and boundary of the tumors, the HCC was divided into 3 Types: Type I--roundish expansive growth type (REG TYPE), Type II--irregular expansive growth type (IREG TYPE), and type III--irregular infiltration growth type (IIG TYPE). Comparing different CT types with findings at laparotomy or pathological specimens, it showed that the intrahepatic tumor dissemination rates of type I, II and III were 18.6%, 37.7%, and 47.8%, respectively. The lymph node metastasis rates were 0, 7.7% and 23.1%, respectively. The portal vein tumor thrombus formation rates were 2.3%, 20.8% and 46.4%, respectively. The proportion of encapsulation (67.4%, 27.3% and 5.28%, respectively) apparently decreased from type I to type III in turn. The differences were statistically significant. From type I to III the resection rate of large sized tumor decreased, and the prognosis was from bad to worse. Survival analysis (Cox's mode) showed significant differences from type I to type III. Therefore, CT classification may be used to evaluate the gross biological behavior of HCC lesions and may be of pathological and clinical relevance.

[Studies on surfactants used for thin layer chromatographic separation of flavones].

The micellar thin layer chromatographic behaviours of rutin, quercetin and morin were studied. The methods of separation and identification were established: Polyamide thin coating was used as the stationary phase and 4% Zeph--acetylacetone--H2O (5:1.5:1.5) used as the mobile phase. The method was applied to the separation and identification of quercetin and rutin in samples of Sophorae flos and satisfactory result was obtained.

[Clinical application of bone cement in cranioplasty].

Cranioplasty usually performed in case of skull defect after craniocerebral injuries. Plexiglass or metal plate were used frequently in our country. This article introduces a new kind of material--bone cement--for skull restoration. 152 cases of skull defects were repaired by bone cement in our clinic. The advantages as below: (1) Bone cement is easy to mould and good in cosmetic result; (2) It's mechanical functions are reliable; (3) Less irritant to the surrounding tissues. The procedures of the operation and principles in utilizing this material were present in detail.