OBJECTIVEPrader-Willi syndrome (PWS) is an example of a human genetic disorder that involves imprinting genes on the proximal long arm of chromosome 15 and SNRPN gene as a candidate gene for this syndrome. The purpose of this study was to show the molecular genetic defects and genomic imprinting basis in Chinese PWS patients and to evaluate the clinical applications of a differential diagnostic test for PWS.

METHODSFluorescence in situ hybridization (FISH) and methylation-specific PCR (MSPCR) techniques were applied for 4 clinically suspected PWS patients. Using three probes, including SNRPN probe for identification of the critical locus in PWS region, D15Z1 and PML control probes for identification of the 15p arm and 15q arm, the authors detected the deletions 15q in PWS. MSPCR was based on sodium bisulfite treatment of DNA and PCR primers specific for the maternal and paternal allele.

RESULTSWhen hybridized with mixed probes, it was found in 2 patients that the central specific signal was absent, but both the flanking control signals were retained, indicating SNRPN gene deletion of chromosome 15q11-13. Bisulfite-modified DNA from all PWS children amplified with methylated allele-specific primer pair showed only maternal 131bp PCR product, indicating the maternal uniparental disomy (UPD15).

CONCLUSIONGenomic imprinting plays an important role in the molecular pathogenesis of PWS that caused by paternal microdeletions of 15q11-q13 or maternal UPD of chromosome 15. The basic defect seemed to be an absence of function of PWS genes that are normally expressed only from the paternal chromosome 15. MSPCR is a rapid and simple PCR-based assay compared with other cyto-molecular tests and its results were consistent with the clinical diagnosis of PWS, so it seems to be a reliable diagnostic method for PWS patients who show abnormal methylation at SNRPN. The genetic differential tests for PWS are important in determining familial recurrence risk.

Adolescent ; Autoantigens ; Chromosome Deletion ; Chromosomes, Human, Pair 15 ; genetics ; Gene Deletion ; Genomic Imprinting ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymerase Chain Reaction ; methods ; Prader-Willi Syndrome ; genetics ; Ribonucleoproteins, Small Nuclear ; genetics ; snRNP Core Proteins

This study was aimed to investigate the effect of arsenic trioxide (As2O3) on expression of vascular endothelial growth factor-C (VEGF-C) and its receptor VEGFR-3 in gastric cancer in order to clarify the role of As2O3 in lymphangiogenesis and metastasis of tumor. The gastric cancer model was established in nude mice by using gastric cancer cell line SGC-7901. As2O3 was injected to the two treatment groups (2.5 mg/kg and 5 mg/kg) and the same volume of saline solution was injected to the control group. Expression of VEGF-C and VEGFR-3 were detected by immunohistochemistry and were analyzed with QWin550cW image Acquiring & Analysis System. The results showed that the expression of VEGF-C and VEGFR-3 in cancer cells significantly reduced in the arsenic -treated groups. The expression of VEGF-C and VEGFR-3 in 5 mg/kg group was significantly less than that in 2.5 mg/kg group. The gray ratio analysis confirmed that there were significant difference between control group and two treated group, as well as between 2.5 mg/kg-treated group and 5 mg/kg-treated group. It is concluded that As2O3 can inhibit expression of VEGF-C and VEGFR-3 of human gastric cancer xenografts in nude mice, which suggests that As2O3 may inhibit the lymphangiogenesis by suppressing the expression of VEGF-C and VEGFR-3.
Animals ; Arsenicals ; pharmacology ; Cell Line, Tumor ; Humans ; Male ; Mice ; Mice, Nude ; Oxides ; pharmacology ; Stomach Neoplasms ; metabolism ; Vascular Endothelial Growth Factor C ; metabolism ; Vascular Endothelial Growth Factor Receptor-3 ; metabolism ; Xenograft Model Antitumor Assays

Child ; Child, Preschool ; China ; epidemiology ; Female ; Hand, Foot and Mouth Disease ; epidemiology ; Humans ; Infant ; Male ; Seasons

This study was aimed to investigate on effect of As(2)O(3) on expressions of COX-2, MMP-2 and MMP-9 in SGC7901 and K562 cells. SGC7901 and K562 cells were cultured in RPMI 1640 medium and were inoculated in culture medium with different concentrations of As(2)O(3) and at different times. Expressions of COX-2, MMP-2 and MMP-9 in SGC7901 and K562 cells were measured by using Western blot, while the levels of COX-2 mRNA and MMP-2 mRNA were measured with fluorescence quantitative RT-PCR. The results showed that the expression of COX-2, MMP-2 and MMP-9 decreased in dose- and time-dependent manners after treating with As(2)O(3). The levels of COX-2 mRNA and MMP-2 mRNA reduced in groups treated with As(2)O(3). In conclusion, As(2)O(3) inhibits expressions of COX-2, MMP-2 and MMP-9 in K562 and SGC7901 cells, suggesting that As(2)O(3) inhibits tumor development through its effect on angiogenesis involved in solid and hematologic malignancies.
Arsenicals ; pharmacology ; Cyclooxygenase 2 ; metabolism ; Gene Expression Regulation, Leukemic ; Humans ; K562 Cells ; Matrix Metalloproteinase 2 ; metabolism ; Matrix Metalloproteinase 9 ; metabolism ; Oxides ; pharmacology

OBJECTIVETo construct the localization system involving anti-TfR monoclonal antibody (McAb) and AFP promoters and assess its effect on human hepatoma cell lines.

METHODSThe conjugate of anti-TfR McAb and polylysine (PLL) was made by SPDP and purified by molecular screen chromatography. DNA blocking test determined that the ratio of one pEBAF/tk to six Ab-PLL was the most suitable to couple them. The pEBAF/tk recombinant plasmid bearing HSV-TK gene was coupled to Ab-PLL by noncovalent bond. The pEBAF/tk was transferred into human hepatoma cell line HepG2, SMMC7721 and pulmonary cancer cell line A549 by receptor-mediated gene delivery (Ab-PLL-DNA) and liposome procedure. The growth inhibitory rates of HepG2, SMMC7721 and A549 cells were measured by MTT assay.

RESULTSThe inhibitory rates of HepG2/tk in 100 mg/L and 1 mg/L of GCV were 60.5% and 24.3%, respectively. The inhibitory rate of GCV to SMMC7721 was 23.2% in 3 days. The pulmonary cancer cell A549, A549/tk (Ab) and A549 /tk (lipo) could not be inhibited by the addition of GCV.

CONCLUSIONThe localization system employed in this paper has high specificity, effectiveness and safety for gene therapy. It would be a promising strategy for gene therapy.

Antibodies, Monoclonal ; therapeutic use ; Carcinoma, Hepatocellular ; therapy ; Cell Line, Tumor ; Ganciclovir ; therapeutic use ; Genetic Therapy ; Humans ; Liver Neoplasms ; therapy ; Receptors, Transferrin ; immunology ; Simplexvirus ; enzymology ; Thymidine Kinase ; genetics ; alpha-Fetoproteins ; genetics

Adult ; Age Factors ; Athletic Injuries ; epidemiology ; Blood Group Antigens ; Body Mass Index ; Humans ; Male ; Military Personnel ; education ; statistics & numerical data ; Physical Education and Training

Objective To explore the clinical effects of stereotactic radiofrequency multitarget lesion on the treatment of senile dementia in patients with mental disorder. Methods Under the CT localization, 18 patients with mental retardation were treated by stereotactic surgery of multi-target lesion.Their therapeutic effects were evaluated by Scale and National Psychosurgery Cooperation Request on Modern Psychosurgery Operation Cure (protocol) in 1990. Results Postoperative follow-up was performed for 12-36 months; 9 patients progressed remarkably; 6 got improvement and only 3 showed no changes; the total effective rate was 83.3%. The scores of brief psychiatric rating scale, social disability screening schedule and scale for assessment of positive symptoms after the treatment were significantly lower than those before the treatment (P＜0.05). Mini-mental state examination showed no changes on the intelligence before and after the treatment (P＞0.05). Conclusion The stereotactic surgery of multi-targets lesion is an effective method in treating senile dementia in patients with mental disorder,with few complications and little influences on the intelligence.

Adolescent ; Body Height ; Chromosomes, Human, X ; Female ; Growth Hormone ; deficiency ; Humans ; Karyotyping ; Monosomy ; Mosaicism ; Turner Syndrome ; genetics ; metabolism ; pathology

OBJECTIVETo elucidate the efficacy and probable prognostic factors of surgical resection of pulmonary metastasis from colorectal cancer.

METHODSClinical data and outcomes of 35 colorectal patients with pulmonary metastasis undergone pulmonary metastasectomy were analyzed retrospectively.

RESULTSMedian follow-up time was 48.0 months. The median overall survival time was 36.0 months. Five-year survival rate was 33.0%. Nineteen patients died of tumor progression. Sixteen patients were survival including survival with tumor (10 cases) and without tumor (6 cases). One patient was still alive without tumor for 164 months. Univariate analysis revealed that disease free interval (DFI) was a prognostic risk factor, while gender, age, primary tumor site, pulmonary metastasis size and location, surgical procedure, pre-surgical CEA level, re-metastasectomy did not show influence on the survival time after pulmonary metastasectomy.

CONCLUSIONSFor some selected patients with indication, pulmonary metastasectomy may be a potential curative method. DFI may be associated with the prognosis after pulmonary metastasectomy.

Colorectal Neoplasms ; mortality ; pathology ; surgery ; Female ; Humans ; Lung Neoplasms ; mortality ; secondary ; surgery ; Male ; Middle Aged ; Pneumonectomy ; Prognosis ; Retrospective Studies ; Survival Rate ; Treatment Outcome

OBJECTIVETo observe the effect of recombinant human epithelial growth factor (rhEGF) in promoting the healing of cervical erosion.

METHODSForty-eight patients with cervical erosion were treated with rhEGF and 30 with 500 kHz high-frequency electromagnetic wave, and the effects of the therapies were compared in terms of healing of the cervical wound, healing time, volume of vaginal discharge and bleeding and the lasting time.

RESULTSIn comparison with radiofrequency therapy, the healing of the lesion took significantly shorter time with rhEGF therapy, which also resulted in less vaginal discharge that lasted for shorter time without causing vaginal bleeding.

CONCLUSIONrhEGF can obviously accelerate the healing of cervical erosion.

Adult ; Electromagnetic Phenomena ; Epidermal Growth Factor ; genetics ; therapeutic use ; Female ; Humans ; Middle Aged ; Recombinant Proteins ; therapeutic use ; Treatment Outcome ; Uterine Cervical Erosion ; drug therapy ; pathology ; therapy ; Wound Healing ; drug effects