Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome / 中华医学遗传学杂志

OBJECTIVE To analyze the clinical features and genetic mutations in a neonate with atypical Cri-du-chat syndrome, whom only featured with weak cry but had no dysmorphic facial features and congenital heart disease. METHODS G-banding karyotyping was performed on the child and her parents. The result was validated by fluorescence in situ hybridization (FISH). Chromosome microarray (CMA) was used to further delineate the mutation. RESULTS G-banding analysis suggested that the child had a karyotype of 46,XX,del(5)(p14p15), while both of his parents had a normal karyotype. FISH confirmed the absence of D5S23 and D5S721 at 5p15.2. A 25.7 Mb deletion was detected in the 5p15.33p14.1 region by CMA. CONCLUSION The phenotype of Cri-du-chat syndrome can vary significantly among patients, particularly in neonates, and can be easily mis-diagnosed. Combined cytogenetic and molecular analysis can identify the missing fragments with greater precision.

Clinical Observation of External Use of Wusheng Tincture for Treatment of Cancer Pain / 广州中医药大学学报

Objective To investigate the therapeutic efficacy of Chinese medicine of Wusheng Tincture for external application in treating cancer pain, and to observe its effect on the quality of life ( QOL) of cancer patients. Methods Eighty-three cancer pain patients were randomized into treatment group (N=42) and control group (N=41). Except 5 cases dropping out for the itch of skin, a total of 78 cases finished the treatment, 40 in the treatment and 38 in the control group. The patients were given the corresponding medicine according to the classification of numerical rating scale ( NRS) scores. In the control group, the patients were treated following the three-step analgestic ladder issued by World Health Organization ( WHO). The treatment group was given external application of Wusheng Tincture on the painful regions based on the same three-step analgestie ladder treatment as that of the control group, the treatment course lasting 7 days. The rating scale NRS scores and QOL scores were observed for the assessment of therapeutic effect and QOL of the two groups. Results (1) On medication day 7, NRS scores in both groups were decreased as compared with those one day before treatment (P0.05) . (2) The total effective rate of the treatment group was 82.5%, and that of the control group was 68.4%, the difference being significant between the two groups ( P0.05) . ( 3) On medication day 7, QOL scores were much lower in both groups than those one day before medication, the difference being significant ( P0.05) . Conclusion External application of Wusheng Tincture may have certain therapeutic effect in treating patients with mild cancer pain, but fails in enhancing the effect for patients with moderate and severe pain, either in improving the QOL of cancer pain patients when used together with WHO three-step analgestic ladder.

RNAi-mediated silencing of CD147 inhibits the proliferation and infiltrations of leukemic cells SHI-1 / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the role of CD147 gene on the proliferation and infiltration of a human monocytic leukemic cell line SHI-1.</p><p><b>METHODS</b>The expression of CD147 in SHI-1 cells was knockdowned by the lentiviral vector. The expressions of CD147, MMP-2 and MMP-9 were detected by semiquantitative RT-PCR. The protein of CD147 was detected by Western blotting. The capabilities of proliferation and infiltration of SHI-1 cell were examined by MTT and trans- matrigel invasion assay co-cultured with leukemia BMSC in vitro. SHI-1 cells were inoculated subcutaneously or via tail vein into nude mice to investigate its growth and infiltrative ability in vivo.</p><p><b>RESULTS</b>The mRNA and protein of CD147 in SHI-1/CD147i cells decreased by 85% and 91%, respectively after the SHI-1 cells were infected by the lentivirus containing the CD147 siRNA. The proliferation capability of SHI-1/CD147i cells significantly decreased than those of SHI-1 and SHI-1/NC cells. The mRNA expressions of MMP-2, MMP-9 in SHI-1/CD147i cells were significantly lower than those in SHI-1/NC and SHI-1 cells. The SHI-1/CD147i cells showed significantly lower invasion rate than SHI-1 cells and SHI-1/NC cells when co-cultured with BMSCs. The neoplasms formed by SHI-1/CD147i cells in the subcutaneous of mice were significantly smaller than of the neoplasms formed by SHI-1 and SHI-1/NC cells. In nude mice inoculated via caudal vein with SHI/CD147i cells, mice demonstrated longer survival and moderate infiltration characteristic than those inoculated with SHI and SHI-1/NC cells.</p><p><b>CONCLUSION</b>CD147 might play important roles in the proliferation and infiltration of leukemia cells. CD147 should be a potential target for the treatment of acute leukemia.</p>

Effects of PTEN on the migration and invasion of endometrial carcinoma cells / 中国癌症杂志

Background and purpose: Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) gene is a kind of tumor suppressors, which has been reported to be underexpressed in endometrial carcinoma (EC) tissues by several reports. However, the biological effects and possible mechanisms of PTEN on EC have been known less. In this study, we tried to investigate the effects and possible mechanisms of PTEN on the invasion and migration of endometrial carcinoma cells and to provide a potential target for endometrial carcinoma therapy. Methods:The recombinant plasmid pIRES2-ZsGreen1-PTEN was rebuilt by gene recombination technology;The plasmid was transferred into HEC-1B cells and the cells transfected with pIRES2-ZsGreen1 plasmid were used as control;The expression of PTEN was observed by fluorescence microscope and Western blot assay;Cell migration and invasion was determined by the wound healing assay, transwell migration and invasion assays respectively;The Western blot analysis was performed to detect the expression of ATP-dependent tyrosine kinase (AKT), phosphorylated-AKT (p-AKT) and matrix metalloproteinase-2 (MMP-2). Results:The agarose gel electrophoresis showed a stripe of 1.2 kb which was same to PTEN cDNA;The sequence analysis showed the PCR products owned the same sequence with the coding region of PTEN cDNA in GenBank, suggesting the recombinant plasmid was constructed successfully;The green light of cells observed by fluorescence microscope and the Western blot analysis showed the expression of PTEN was upregulated in the cells transfected with the recombinant plasmid, suggesting the plasmid expressed successfully in HEC-1B cells;The wound healing assay as well as transwell migration assay showed ectopic expression of PTEN suppressed cell migration;The invasive capacity of HEC-1B cells was significantly decreased upon transfection with PTEN plasmid compared to control and untreated groups;Moreover, compared with the control groups, the expression of p-AKT and MMP-2 was downregulated, while there was no significant alteration of the expression of AKT. Conclusion:PTEN could suppress cell migratory and invasive ability of endometrial carcinoma cells by suppressing the phosphorylation of AKT followed by the decrease of MMP-2.