Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

Williams–Beuren syndrome (WBS) has a prevalence of 1/7500–20000 live births and results principally from a de novo deletion in 7q11.23 with a length of 1.5 Mb or 1.8 Mb. This study aimed to determine the frequency of 7q11.23 deletion, size of the segment lost, and involved genes in 47 patients with a clinical diagnosis of WBS and analysed by fluorescence in situ hybridization (FISH); among them, 31 had the expected deletion. Micro-array comparative genomic hybridization (aCGH) confirmed the loss in all 18 positive-patients tested: 14 patients had a 1.5 Mb deletion with the same breakpoints at 7q11.23 (hg19: 72726578–74139390) and comprising 24 coding genes from TRIM50 to GTF2I. Four patients showed an atypical deletion: two had a 1.6Mb loss encompassing 27 coding genes, from NSUN5 to GTF2IRD2; another had a 1.7 Mb deletion involving 27 coding genes, from POM121 to GTF2I; the remaining patient presented a deletion of 1.2 Mb that included 21 coding genes from POM121 to LIMK1. aCGH confirmed the lack of deletion in 5/16 negative-patients by FISH. All 47 patients had the characteristic facial phenotype of WBS and 45 of 47 had the typical behavioural and developmental abnormalities. Our observations further confirm that patients with a classical deletion present a typical WBS phenotype, whereas those with a high (criteria of the American Association of Pediatrics, APP) clinical scorebut lacking the expected deletion may harbour an ELN point mutation. Overall, the concomitant CNVs appeared to be incidental findings.

FAM70B as a Novel Prognostic Marker for Cancer Progression and Cancer-Specific Death in Muscle-Invasive Bladder Cancer

PURPOSE: To validate whether FAM70B, which was found in our micro-array profiling as a prognostic marker for cancer survival, could accurately predict prognosis in patients with muscle-invasive bladder cancer (MIBC). MATERIALS AND METHODS: A total of 124 patients with MIBC were enrolled in this study. The FAM70B expression level was analyzed by real-time polymerase chain reaction by using RNA from tumor tissues. The prognostic effect of FAM70B was evaluated by Kaplan-Meier analysis and a multivariate Cox regression model. RESULTS: Kaplan-Meier estimates showed a significant difference in progression-free survival (log-rank test, p=0.011) and cancer-specific survival (log-rank test, p=0.017) according to FAM70B gene expression level. By multivariate Cox regression analysis, high FAM70B expression was predictive of cancer progression (hazard ratio [HR], 2.115, p=0.013) and cancer-specific death (HR, 1.925; p=0.033). In the subgroup analysis, high expression of FAM70B was associated with poor cancer-specific survival, progression-free survival, and overall survival in the patients who underwent cystectomy (log-rank test, p=0.013, p=0.036, p=0.005, respectively). In the chemotherapy group, FAM70B expression was associated with cancer-specific survival and progression-free survival (log-rank test, p=0.013, p=0.042, respectively). Moreover, high FAM70B expression was associated with shorter cancer-specific survival in localized or locally advanced tumor stages (log-rank test, p=0.016). CONCLUSIONS: We confirmed the significance of FAM70B as a prognostic marker in a validation cohort. Therefore, we propose that the FAM70B gene could be used to more precisely predict cancer progression and cancer-specific death in patients with MIBC.

Insilico microarray analysis for helicobacter pylori using gene expression data.

Helicobacter pylori is a Gram-negative, microaerophilic bacterium that inhibits various areas of the stomach and duodenum. It causes a chronic low-level inflammation of the stomach lining and is strongly linked to the development of duodenal and gastric ulcers and stomach cancer. To better understand adaptive mechanisms utilized by H.pylori within the context of the host environment, spotted-DNA microarrays was utilized to characterize in a temporal manner, the global changes in gene expression in response to low pH in the pathogenic H. pylori strain G27. Raw data of this microarray work was available in Stanford Microarray Database. Co-regulated genes may share similar expression profiles, may be involved in related functions or regulated by common regulatory elements. There are different approaches to analyse the large-scale gene expression data in which the essence is to identify gene clusters. This approach has allowed us to (i) determine expression profiles of previously described developmentally regulated genes, (ii) identify novel developmentally regulated genes. The Helicobacter pylori is an important human and veterinary pathogen. In this work raw data of Helicobacter pylori is used as a sample to find out the coexpressed gene.

Making and using inexpensive manually constructed tissue micro-array: Experience of a tertiary care hospital in India.

Background: Tissue micro-array enables the analysis of a large number of tissues simultaneously. Widespread use of this technology is hampered by the high cost of commercial array instruments. We describe our experience of constructing tissue micro-array in a simple method using easily available and inexpensive instruments. Materials and Methods: We used an 11-19 gauge (G) bone marrow trephine biopsy needle/ small sized slotted screwdriver to punch holes in the wax blocks. Cores were taken from donor tissue blocks using a bone marrow trephine biopsy needle and arrayed into host paraffin wax blocks. A detailed database was constructed for each array constructed. Results: The array blocks were used over a period of one year as internal control for immunohistochemistry (IHC), quality control and research. It took about 10 minutes to construct a nine-dot array and about one hour for a 56-dot array. During IHC, the average loss of control dots was less than one per cent. We did not see any loss of antigenicity in the control sections even after four weeks storage. Discussion: Tissue array construction by the technique described here is inexpensive and reliable alternative to automated instruments. Because it is easy to modify the arrays by varying the core size, it is easy to adapt this to individual labs and requirements. We recommend using blocks with cores in 3 × 3 to 5 × 4 grids as controls in IHC and for standardizing antibodies and array blocks with a larger number of cores for research.

Clinical application of a micro-array for multi-tumor marker detection / 医学研究生学报

Objective: To investigate the clinical value of a micro-array for multi-tumor marker detection (abbreviate C-12 system in the following) in four kinds of tumors (lung, liver, pancreas/colon and stomach cancers). Methods:30 lung cancer?19 liver cancer?24 pancreas/colon?22 stomach cancer and 173 non-tumor patients' serum were detected by C-12 system, and the results were analyzed by ROC curve.Results:There is no difference in the positive rate of single TM between C-12 system and the previously reports; The positive rate and the mean positive value of tumor patients were both obviously higher than that of non-tumor patients (P

Correlation between CXCR4,VEGF and the blood metastasis of osteosarcoma / 中国癌症杂志

Background and purpose:The chemokine,CXCL12 and its receptor,CXCR4,have recently been shown to play an important role in the metastasis of several kinds of carcinoma. It also has been demonstrated that VEGF regulates both the expression of CXCR4 and invasiveness in cancer cell. Our aim was to study the expression of CXCR4,VEGF in osteosarcoma and the correlation between these two factors and distant metastasis. Methods: The immunohistochemical staining SP method was used to detect the expression of CXCR4 and VEGF in 56 cases of osteosarcoma. We analyzed the correlation between the expression of CXCR4 and VEGF,and the correlation between the expression of CXCR4,VEGF and clinical stage,the level of ALP. The patients were followed up for 2 years. Results:There was signifi cant correlation between the expression of CXCR4 and VEGF in 56 cases(r=5.678,P=0.02). Univariate analysis showed a signifi cant correlation between the expression of CXCR4,VEGF and clinical tumor stage(P=0.026),and no correlation between the expression of these two factors and age,sex and serum ALP level. 31 cases had metastasis in two years in a total of 56 follow-up cases,and the expression of CXCR4 and VEGF was associate with metastasis(P=0.018 and P=0.022,respectively). Conclusion:VEGF can upregulate tumor angiogenesis and promote tumor metastasis to specific organ by increasing expression of CXCR4.The increasing expression of CXCR4 and VEGF is useful to predict metastasis and prognosis of osteosarcoma.

Rapid Species Identification of Mycobacterium tuberculosis by rpoB Gene Micro Array / 微生物学通报

Rapid species identification of Mycobacterium tuberculosis by rpoB gene micro array.Based on the gene micro array of rpoB,the standard strains of 21 mycobacteria and 8 non-mycobacteria,126 clinical isolated of mycobacteria were detected by PCR-reverse dot blot hybridization assay.360bp DNA fragment was amplified from all mycobacteria tested and was not found in all nonmycobacteria except Hemolytic streptococcus and Corynebacterium pseudodiphtheriticum.The result of specimens were detected by the probe which is composed of 21 oligonucleotide was that probe-Mycobacterium fortuitum cross hybridizated with Mycobacterium platypoecilus while the other probes were specific.The 89 strains of the all 126 strains isolated from clinical specimens were identified to be mycobacterium tuberculosis,the percentage was 70.6%(89/126),while the other 9 strains were identified to be unmycobacterium tuberculosis and the the percentage was 9.2%(9/98).Identification of Mycobacteria by rpoB gene micro array is a rapid and effective method which is of considerable value in clinical territory.

Study of Piezoelectric Analyzer of Protein Chip / 医疗卫生装备

Objective To develop a portable analyzer which can rapidly detect antigen of type B hepatitis,antibody of HIV and H5N1 in blood samples.Methods The micro-processor of STC89C52 was adopted as the controlling core in the system.Based on an embedded technology,the analyzer can rapidly detect the antigen of type B hepatitis,antibody of HIV and H5N1 by processing the synchronic frequency of quartz crystal micro-array and by sensitivity of quality on the surface of quartz crystal with special identification between antibody and antigen.Results The system has the advantages of high sensitivity,better sample-specific characteristics,convenient portability and multi-parameter simultaneous detection.Conclusion The piezoelectric analyzer exceeds the traditional reagent method and serves for institution of scientific research and hospital widely.