Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. Results:Among these patients, four were siblings from two unrelated families, the others were unrelated. There were 31 cases with childhood cerebral (CCALD), 8 cases with adolescent cerebral (ACALD) and 1 case with adrenomyeloneuropathy (AMN). Visual impairment, which presented in 12 cases (30%), was the most common initial symptom. Nine (69%) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency. By follow-up date, 19 cases (47.5%) were dead. The interval from onset to death varied from 1 to 6 years and the average were 3.3 years. The mean age at death was 10.5 years. Eleven cases (27.5%) were in vegetable state. The mean interval from onset to apparently vegetable state was 2.8 years (range from 1 to 6 years). Four cases had progressive neurological disability. Four cases were lost follow-up. One case with CCALD and one case with ACALD progressed slowly. The courses of the disease of these two patients were 5 years and 15 years respectively. Thirty five mutations were identified in 40 cases. Most were located within exon 1-3 (40%, 16/40) and exon 6-8 (42%, 17/40). There is a distinct clustering of missense mutations in exon 6 (17%, 7/40). Five types of mutations were associated with CCALD, three with ACALD and a missense mutation was identified in the patients with AMN. The two patients with long disease courses had a missence mutation c.1559 T>A and a nonsense mutation c.1785 G>A respectively. The siblings with similar manifestations and onset age were observed in two families, whose mutations were c.887 A>G and c.1028 G>T. Conclusion:The phenotypes, disease severity and rate of neurodegeneration could not be predicted by the nature of mutations.

Objective: To understand the effect of dobutamine on the integrated backscatter of myocardium. Methods: Nineteen open-chest dogs were detected by HP Sonos 5500 with S8 transducer, and the WT, AIBS and CVIB were measured before and after the dobutamine stress. Results: During the dobutamine stress, following the increase of WT, the transmural, subepicardial and subendocardial CVIB all increased. And the increase of subepicardial CVIB was greater than that of subendocardial CVIB, leading to the decrease of TGI. But the AIBS didn't change significantly in the whole process. Conclusion: Dobutamine can enhance myocardium CVIB but has no obvious infleunce on AIBS.

Objective To explore and analyse the prevalence of thyroid cancer among population of Jing′an District, Shanghai, providing a scientific basis for prevention and intervention. Methods Analysis was made on the prevalence of thyroid cancer in Jing′an District in 2014 and its incidence and death trend from 2009 to 2014 based on the data of Shanghai Cancer Registration and Reporting System. Results From 2005 to 2014, the total number of thyroid cancer cases in Jing′an District were 2 430, ranking fourth of all malignant tumors.The crude incidence rate of thyroid cancer was 24.33/100 000, the standardized incidence rate was 16.67/100 000.The ratio of male to female was 0.34 : 1;the difference in incidence between male and female was significant(χ²=579.77, P < 0.01).In different age groups the difference in incidence was also statistically significant(χ²=419.90, P < 0.01).The highest incidence was in 45-64 years old group, followed by 15-44 years old group. Only 155 deaths occurred; the ratio of death to morbidity was 1 : 15.68.Standardized incidence of thyroid cancer was increasing in Jing′an District from 2005 to 2014(trend Chi-square tests, χ²=7.33, P < 0.01).APC was 20.69%(male 23.81%, female 19.44%).The standardized mortality rate from 2005 to 2014 was at a relatively low level, and the trend of change was not statistically significant. Conclusion The government and society should pay high attention to the status of high detection rate and low mortality rate of thyroid cancer.The focus of prevention and control is rational diagnosis and treatment for a large number of thyroid cancer patients.

Aged ; Aged, 80 and over ; Humans ; Laser Therapy ; Male ; Middle Aged ; Prostatic Hyperplasia ; surgery ; Treatment Outcome

Adenosine Triphosphate ; Atropine ; Child, Preschool ; Echocardiography, Stress ; methods ; Female ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; diagnostic imaging ; Myocardial Ischemia ; diagnostic imaging ; etiology

OBJECTIVETo investigate the growth of craniopharyngioma involving the third ventricular floor with regard to the hypothalamus by detecting expressions of leukocyte common antigen (CD45) and intercellular adhesion molecule (ICAM-1) in the tumor tissue.

METHODSThe expressions of CD45 and ICAM-1 proteins in 30 craniopharyngioma samples with third ventricular floor involvement were detected by SP immunohistochemistry.

RESULTSThe inflammations labeled by CD45 were identified commonly in the craniopharyngioma tissues involving the third ventricular floor. The expression of ICAM-1 was mainly in the inner tumor cells and interstitial cells, but not detected in the basilar tumor cells growing toward the third ventricular floor. Adamantinomatous craniopharyngiomas showed markedly higher CD45 and ICAM-1 expressions than squamous papillary tumors (P<0.05).

CONCLUSIONInflammatory adhesion largely characterizes the growth of the craniopharyngioma tissues involving the third ventricular floor toward the hypothalamus without the tendency of invasion. The difference in the inflammation between the two types of craniopharyngioma may affect the prognosis of the patients.

Adolescent ; Adult ; Aged ; Brain Neoplasms ; metabolism ; secondary ; Child ; Craniopharyngioma ; metabolism ; pathology ; surgery ; Female ; Humans ; Hypothalamus ; metabolism ; pathology ; Immunohistochemistry ; Intercellular Adhesion Molecule-1 ; biosynthesis ; Leukocyte Common Antigens ; biosynthesis ; Male ; Middle Aged ; Neoplasm Invasiveness ; Pituitary Neoplasms ; metabolism ; pathology ; surgery ; Third Ventricle

OBJECTIVETo study the effect of Epstein-Barr virus (EBV) encoded latent membrane protein 1 (LMP-1) on the tumor growth and metastasis of nasopharyngeal carcinoma (NPC) cells in vivo and its possible mechanism.

METHODSTo construct two recombinant adeno-associated virus (rAAV): rAAV-shRNA-LMP-1 and rAAV-EGFP (enhanced green fluorescent protein). Multiplicity of infection (MOI) was confirmed by using different titre of rAAV-EGFP to transfect a NPC cell line, C666-1. Then C666-1 cells were transfected by rAAV-shRNA-LMP-1 at MOI titre and the inhibiting efficiency of target gene's expression was confirmed by reverse transcription polymerase chain reaction (RT-PCR). C666-1 cells treated by RNAi on LMP-1 in vitro was directly inoculated into the liver via laparotomy under direct vision to establish the animal model of NPC xenograft in liver and lung metastasis from the liver. The biological effect and its mechanism after "gene silencing" of LMP-1 on NPC cells tumorigenesis and metastasis were observed by the primary intrahepatic tumor formation and lung metastasis and the expression of matrix metalloproteinases-9 (MMP-9) revealed by immunohistochemistry.

RESULTSThe transfection efficiency was higher than 95% with 5 x 10(4) virus genome (v.g)/cell with rAAV-EGFP. The expression of target gene was inhibited more than 90%, assessed by RT-PCR after transfection with rAAV-shRNA-LMP-1 at a dose of 5 x 10(4) v.g/cell. The primary tumor volume implanted in the liver of rAAV-shRNA-LMP-1 treatment was (0.2527 +/- 0.1152) cm3, with no significant difference in comparrison with rAAV-EGFP control group [(0.2533 +/- 0.0754) cm3, P>0.05]. But the rate of intrahepatic tumor formation was 50.0% and the rate of lung metastasis was 33.3% of the rAAV-shRNA-LMP-1 group, significantly lower than those in the rAAV-EGFP group (P<0.05). The survival time (15.50 +/- 2.47) d of rAAV-shRNA-LMP-1 group was significantly longer than that in the rAAV-EGFP group [(11.50 +/- 1.22) d, P<0.05]. Immunohistochemistry indicated suppression of LMP-1 by rAAV-shRNA-LMP-1 can down-regulate the expression of MMP-9 significantly.

CONCLUSIONThe expression of LMP-1 can be suppressed effectively by rAAV mediated RNA interference. The suppression of LMP-1 expression has no effect on cell growth but can inhibit the metastasis in vivo, probably through down-regulating the expression of MMP-9.

Animals ; Cell Line, Tumor ; Dependovirus ; genetics ; Down-Regulation ; Gene Expression Regulation, Neoplastic ; Gene Expression Regulation, Viral ; Genetic Vectors ; Green Fluorescent Proteins ; genetics ; Humans ; Liver Neoplasms ; metabolism ; pathology ; Lung Neoplasms ; metabolism ; secondary ; Male ; Matrix Metalloproteinase 9 ; metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Nasopharyngeal Neoplasms ; pathology ; Neoplasm Transplantation ; RNA Interference ; RNA, Small Interfering ; Transfection ; Viral Matrix Proteins ; genetics ; metabolism

Background The treatment of symptomatic benign prostatic hyperplasia (BPH) remains a challenge for most urologic surgeons. We studied a cumulative cohort of patients with symptomatic benign prostatic hyperplasia (BPH) who underwent photoselective vaporization of the prostate (PVP) and evaluated the efficacy and safety of this procedure.Methods A total of 196 patients with lower urinary tract obstruction symptoms secondary to BPH were treated using laser vaporization of the prostate under sacral canal anesthesia at our institutions. The therapeutic results were assessed using following variables: the safety and efficacy of sacral anesthesia, blood loss, operative time, indwelling catheterization. Preoperative and perioperative parameters were evaluated in the international prostate symptom score (IPSS), quality of life score (QoL), maximal urinary flow rate (Qmax), post-void residual urine volume (PVR) and the change of sexual function. Patients were also assessed for 3-month follow up. Results PVP was performed successfully for all patients. There were 195 patients under sacral anesthesia and 1 patient under epidural anesthesia. Mean operative time was (45.2±18.5) minutes. The mean IPSS decreased from (26.6±3.2) to (5.6±1.4) and the QoL score decreased from (5.7±0.4) to (1.6±0.5), respectively (P<0.05), while mean Qmax increased from (6.7±2.5) ml/s preoperatively to (19.6±2.4) ml/s, PVR decreased from 158.4 to 25.8 ml, respectively (P<0.05). Average catheterization time was (1.8±0.9) days. There was no significant blood loss or fluid absorption during the period of PVP. Complications consisted of transient dysuria in 3 patients (1.5%), delayed gross hematuria in 5 patients (2.5%), respectively. Significant improvement in clinical outcomes were noted as early as 3 months after PVP treatment.Conclusions PVP is considered as a high satisfaction rate by patient and a minimal postoperative complication. Hence, PVP is a novel, safe, effective and minimal invasive treatment for patients with symptomatic BPH.

OBJECTIVETo study the role of Epstein-Barr virus (EBV)-encoded latent membrane protein 1 (LMP-1) in nasopharyngeal carcinoma (NPC) cell growth and metastasis in vivo by recombinant adeno-associated virus (rAAV)-mediated RNA interference (RNAi).

METHODSSpecific small hairpin RNA (shRNA) targeting EBV-LMP-1 gene was designed and synthesized to construct two rAAV vectors rAAV-shRNA-LMP-1 and rAAV-EGFP. The multiplicity of infection (MOI) was confirmed using different titers of rAAV-EGFP to transfect the NPC cell line C666-1. The C666-1 cells were transfected by rAAV-shRNA-LMP-1 at the optimal MOI titer and the inhibition efficiency of the target gene expression was determined with RT-PCR. The C666-1 cells with RNAi of LMP-1 gene were injected into nude mouse liver via laparotomy to establish the animal model of hepatic and lung metastases of NPC cells. The metastases of the C666-1 cells in the liver and lungs were observed to assess the effect of LMP-1 gene silencing on the tumorigenic and metastatic potentials of the cells in vivo.

RESULTSThe transfection efficiency of 5 x 10(4) virus genome/cell rAAV-EGFP exceeded 95%. The expression of the target gene was suppressed by over 90% as shown by RT-PCR after transfection with rAAV-shRNA-LMP-1 at 5 x 10(4) virus genome/cell. Animal experiments showed that compared with rAAV-EGFP, rAAV-shRNA-LMP-1 transfection did not reduce the primary tumor volume implanted into the liver, but significantly inhibited the intrahepatic and lung metastases of the NPC cells.

CONCLUSIONLMP-1 expression can be suppressed effectively by rAAV-mediated RNAi, and LMP-1 suppression does not obviously affect the tumor cell growth but can inhibit their metastasis in vivo.

Animals ; Cell Line, Tumor ; Cell Proliferation ; DNA, Recombinant ; genetics ; Dependovirus ; genetics ; Gene Expression Regulation, Neoplastic ; Herpesvirus 4, Human ; genetics ; Humans ; Male ; Mice ; Mice, Nude ; Nasopharyngeal Neoplasms ; genetics ; pathology ; Neoplasm Metastasis ; RNA Interference ; Viral Matrix Proteins ; genetics

Objective To investigate the effects of the enhancer of zeste homolog 2 (EZH2) gene on cell growth and invasion of the nasopharyngeal carcinoma (NPC).Methods Recombinant lentivirus vector for shRNA delivery of EZH2 was constructed and transfected into 293FT cells. After collecting the viral particles, the NPC cell line 5-8F cells were transfected. The effects of EZH2 silence on cell proliferation and cell cycle were detected using MTT assay,plate colony formation assay and flow cytometry.The migration and invasion of 5-8F cells were determined by wound healing assay and matrigel invasion assay,respectively.The expressions of EZH2 and epithelial-mesenchymal transition (EMT) -related markers at mRNA and protein levels were examined by real-time PCR and Western blot respectively.Results The expressions of EZH2 mRNA and protein in the transfected 5-8F cells were obviously reduced. MTT assay showed that EZH2 downregulation significantly inhibited the growth of 5-8F/shEZH2 cells( P ＜ 0.001 ).Colony formation rate (84.44％ ) of 5-8F/shEZH2 cells was lower than control (31.56％,P =0.001 ).Cell cycle analysis showed that most 5-8F/shEZH2 cells were arrested in G0/G1 phase,with a very low ratio of cells in S phase.Wound healing assay indicated that the migration ability of cells silencing EZH2 decreased significantly,and the 48-hour relative migration distance of 5-SF/ShEZH2 cells and control cells was 0.58 ± 0.05,and 0.81 ± 0.02,respecptively(P ＜ 0.000).Matrigel invasion assay,showed the invasive capacity of cells silencing EZH2 was significantly inhibited,with less penetrating cells (72.23 ± 4.08 ) compared to control( 150.95 ± 16.27),P ＜ 0.000.The mRNA expressions of epithelial markers E-cadherin and Keratin 18 in the cells silencing EZH2 increased by 177％ and 158％ respectively,and the mRNA expressions of mesenchymal markers β-catenin and N-cadherin decreased by 18.04％ and 41.18％ respectively. Similar results also were obtained with Western blot analysis. Conclusion EZH2 significantly enhanced the proliferation and invasion of nasopharyngeal carcinoma cells in vitro,which might be mediated by inducing EMT.