OBJECTIVE: To explore the expression and significance of programmed cell death 5 (PDCD5) and Bcelllymphoma/lewkmia-2(Bcl-2) in sinonasal squamous cell carcinoma (SNSCC). METHOD: Immunohistochemical method and Western Blot method was used to determine the expression of PDCD5 and Bcl-2 in specimen of SNSCC in thirty cases, sinonasal inverted papillomas (SNIP) in thirty-eight cases, and normal nasal mucosa in twenty cases. RESULT: (1) The expression of PDCD5 protein in SNSCC significantly decreased compared with SNIP and normal nasal mucosa. (2) The expression of Bcl-2 protein in SNSCC up-regulated obviously compared with SNIP and normal nasal mucosa. (3) Positive rate of PDCD5 protein and Bcl-2 protein in well, moderate and low differentiatied group is respectively 100.00%, 83.33%, 38.89% and 50.00%, 70.83% and 100.00%, the difference was statistically significant (P < 0.05). (4) In the follow-up cases, the survival rate of the patients with higher expression of PDCD5 protein was higher, but that with lower expression of Bcl-2 protein was higher. CONCLUSION The inactivation of PDCD5 protein and the activation of Bcl-2 protein may play an important role in the development of SNSCC, and there are a positive correlation between PDCD5 and Bcl-2 protein in SNSCC, which may be identified as a new therapeutic target.
Apoptosis Regulatory Proteins ; metabolism ; Carcinoma, Squamous Cell ; metabolism ; mortality ; Head and Neck Neoplasms ; metabolism ; mortality ; Humans ; Neoplasm Proteins ; metabolism ; Papilloma, Inverted ; metabolism ; Paranasal Sinus Neoplasms ; metabolism ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Squamous Cell Carcinoma of Head and Neck ; Survival Rate

OBJECTIVETo identify genetic abnormalities in primary gastric carcinoma.

METHODSComparative genomic hybridization (CGH) was used in screening DNA copy number changes along all chromosomes in 23 cases of primary gastric cancer.

RESULTSTwenty-one out of 23 cases showed chromosomal losses and gains for at least one of the chromosomal arms in primary gastric cancer. The mean number of chromosomal alterations was 7.52. Chromosomal gains predominated over chromosomal losses in a ratio of 5.38:2.14. The most often involved chromosomal gains were observed in 8q (9/21, 42.9%), 20q (9/21, 42.9%), 17q (8/21, 38.1%), 3q (7/21, 33.3%), 7q (7/21, 33.3%), 11q (6/21, 28.6%), 13q (6/21, 28.6%), 1q (5/21, 23.8%) and 20p (5/21, 23.8%). The chromosomal arms with frequent losses were 17p (7/21, 33.3%), 18q (6/21, 28.6%), 5q (5/21, 23.8%), 8p (5/21, 23.8%), and 9p (5/21, 23.8%).

CONCLUSIONSThe phenomenon of gain and loss of chromosomal regions is observed in primary gastric cancer, which may induce the amplification of oncogenes and the loss of tumor suppressor genes to regulate the development and progression of gastric cancer.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosome Deletion ; Comparative Genomic Hybridization ; DNA ; Female ; Gene Expression Profiling ; Genes, Tumor Suppressor ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Neoplasm Staging ; Stomach Neoplasms ; genetics ; pathology

AIMTo identify a novel alternative transcript of the novel retinal pigment epithelial cell gene (NORPEG) expressed in the human testis.

METHODSA human testis cDNA microarray was established and hybridized with cDNA probes from human fetal testes, adult testes and human spermatozoa. Differentially expressed clones were sequenced and analyzed. One of these clones was a short transcript of NORPEG which we proceeded to analyze by RT-PCR.

RESULTSThe novel short alternative transcript of NORPEG was isolated and named sNORPEG. It was 3486 bp in length and contained a 2952-bp open reading frame, encoding a 110.4-kDa protein of 983 amino acids. Amino acid sequence analysis showed that the sNORPEG protein contains six ankyrin repeats and two coiled-coil domains. It shares a high homology with the NORPEG and ankycorbin proteins in both its sequence and motifs. Blasting the human genome database localized sNORPEG to human chromosome 5p13.2-13.3. Expression profiles showed that sNORPEG was expressed in human fetal testes, adult testes and spermatozoa. Moreover, sNORPEG was found to be ubiquitously expressed in human tissues.

CONCLUSIONsNORPEG is expressed in different developmental stages of the testis and encodes a protein that may have roles in human testis development and spermatogenesis.

Alternative Splicing ; Amino Acid Sequence ; Base Sequence ; Cytoskeletal Proteins ; genetics ; DNA, Complementary ; Gene Expression Profiling ; Humans ; Male ; Molecular Sequence Data ; Open Reading Frames ; RNA, Messenger ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Homology, Amino Acid ; Testis ; metabolism ; Transcription Factors ; genetics

OBJECTIVETo achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling.

METHODSA total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing.

RESULTSOf the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing.

CONCLUSIONThe total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The mutation rate of mitochondrial DNA 12S rRNA is 2.71‰, which may have deafness induced by aminoglycoside antibiotics. Newborn screening for mutation of genes related to hereditary deafness plays an important role in the early detection and proper management for neonatal deafness as well as genetic counseling for premarital, prenatal and postnatal diagnosis.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; diagnosis ; ethnology ; genetics ; Dried Blood Spot Testing ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genetic Testing ; methods ; Humans ; Infant, Newborn ; Membrane Transport Proteins ; genetics ; Microarray Analysis ; methods ; Mutation ; Neonatal Screening ; methods ; RNA, Ribosomal ; genetics

OBJECTIVETo investigate the value of transabdominal ultrasonography (TAUS) in preoperative assessment of TNM stage and tumor angiogenesis for patients with gastric carcinoma.

METHODSSixty- four patients with gastric carcinoma preoperatively underwent TAUS, in whom transabdominal color Doppler ultrasonography was used for measuring color Doppler vascularity index (CDVI) of each tumor in 37 cases and microvessel density (MVD) was evaluated by using immunohistochemical staining of surgical specimens with anti- CD34 antibody.

RESULTSThe overall accuracy rate was 56.0% for T staging of gastric carcinoma (T (1) 2/3 cases, T (2) 28.6% , T (3) 73.1% , T (4) 50.0% , respectively) by TAUS. The diagnostic accuracy rate was 63.3% for lymph node status of gastric carcinoma. The diagnostic sensitivity and specificity for lymph node metastasis was 37.9% and 100% respectively. The overall accuracy for N staging of gastric carcinoma was 57.1% (N (0) 100% , N (1) 16.7% , N (2) 35.3% , respectively). The diagnostic sensitivity and specificity for determining distant metastases was 58.3% and 100% respectively. The CDVI of gastric carcinoma determined by color Doppler ultrasonography was significantly correlated to vascular invasion (P=0.0418), a linear correlation between CDVI and MVD was determined by logistic regression analysis (r=0.5628, P< 0.01).

CONCLUSIONTAUS can be a routine diagnostic approach for preoperative gastric carcinoma patients.

Abdomen ; diagnostic imaging ; Adult ; Aged ; Female ; Humans ; Male ; Microvessels ; Middle Aged ; Neoplasm Staging ; Neovascularization, Pathologic ; diagnostic imaging ; Stomach Neoplasms ; diagnostic imaging ; pathology ; Ultrasonography, Doppler, Color ; methods

OBJECTIVETo observe the hepatic injury following stop- flow chemotherapy and investigate the potential mechanisms.

METHODSTwelve healthy hybrid female pigs were randomly divided into two groups as stop- flow group (SF) and stop- flow chemotherapy (SFC) group. The expression of IL- 8 and ICAM- 1 mRNA in hepatic biopsies was detected by RT- PCR, and the expression of NF- kappa B P65 subunit in nuclei was assessed by Western blot analysis. The levels of ALT and AST, and histopathologic alterations were examined to evaluate the hepatic function at different time before and after stop- flow procedure.

RESULTSThe expression of NF- kappa B P65 subunit, IL- 8 and ICAM- 1mRNA increased at 30 min after stop- flow procedure, and gradually decreased at 3 h and 6 h after stop- flow procedure. The levels of ALT and AST decreased after reaching the peak at 24 h after stop- flow procedure, but removed one week after stop- flow procedure. Cytoplasmic microvascular steatosis developed with appreciable neutrophils infiltration after early stop- flow procedure without significant destroy occurred in the structure of hepatic lobule. No significant difference of various parameters above occurred between SF and SFC groups.

CONCLUSIONThe hepatic injury following stop- flow procedure was self-limited and reversible. There is no severe destroy of hepatic structure and disfunction during stop- flow chemotherapy.

Animals ; Chemotherapy, Cancer, Regional Perfusion ; methods ; Disease Models, Animal ; Female ; Infusions, Intra-Arterial ; Intercellular Adhesion Molecule-1 ; metabolism ; Interleukin-8 ; metabolism ; Liver ; blood supply ; drug effects ; metabolism ; pathology ; RNA, Messenger ; metabolism ; Swine ; Transcription Factor RelA ; metabolism

OBJECTIVETo investigate amplification of zinc finger protein 217(ZNF217) and its association with clinicopathologic parameters in primary gastric carcinoma.

METHODSSemiquantitative polymerase chain reaction (PCR) was used to determine DNA copies of ZNF217 in the specimens from forty- seven cases with primary gastric carcinoma.

RESULTSThere was no difference in DNA copies between tumor specimens and paratumor normal tissues. The incidence of ZNF217 amplification was 11.36% in gastric cancer. The amplification of ZNF217 was significantly associated with tumor size(P< 0.01) and intestinal type of stomach cancer(P< 0.05).

CONCLUSIONOncogene ZNF217 may play a role in specific tumor types or subtypes of gastric cancer. There may be other oncogenes associated with gastric carcinoma in 20(q)13.

Adult ; Aged ; Aged, 80 and over ; DNA, Neoplasm ; genetics ; Female ; Gene Amplification ; Humans ; Male ; Middle Aged ; Stomach Neoplasms ; genetics ; Trans-Activators ; genetics

OBJECTIVETo determine the microsatellite instability in gastric carcinomas, examine the frameshift mutations of transforming growth factor-beta type II receptor (TGFbetaRII), insulin growth factor II receptor (IGFIIR), bcl-2 associated X protein (BAX) and E2F4, and investigate whether or how alterations of the TGFbetaRII, IGFIIR, BAX and E2F4 gene are associated with MSI in gastric cancer.

METHODSFormalin-fixed, paraffin-embedded gastrectomy specimens and matching normal tissues of 65 cases of gastric carcinomas were retrieved from shanghai Ruijin Hospital and Shanghai East Hospital. DNA was extracted from tissue sections using phenol chloral isoamyl alcohol. Sections with no more than 50% of tumor cell areas were isolated by microdissection. DNA was amplified by PCR-based single strand conformation polymorphism (SSCP) for microsatellite analysis and was sequenced directly. Frameshift mutations in the coding regions, repetitive mononucleotide tracts of (A)10 for TGFbetaRII, (G)8 for IGFIIR, (G)8 for BAX, and trinucleotide repeats of (AGC)13 for transcription factors E2F4 were detected using PCR. Tumors were classified as being microsatellite stable (MSS) or having a low frequency of MSI (MSI-L, one of markers different in the tumor) or a high frequency of MSI (MSI-H, two or more of markers different).

RESULTSEleven cases (18.0%) showed MSI-L, 12 (19.7%) showed MSI-H and 38 (62.3%) cases showed MSS. The mutation rates of TGFbetaRII, IGFIIR, BAX and E2F4 gene were 19.7%, 4.9%, 6.6% and 16.4% respectively. Among the 12 MSI-H gastric cancers, there were 10 TGFbetaRII mutations, 3 IGFIIR mutations, 4 BAX mutations and 10 E2F4 gene mutations. The alterations in the repeats of the related genes presented polymorphisms. Associations of MSI-H status and mutations of the 4 genes were highly significant (P < 0.01, respectively). No repeat tracts mutations in TGFbetaRII, IGFIIR, BAX and E2F4 gene were found in MSS tumors.

CONCLUSIONSThe repeat coding regions within TGFbetaRII, IGFIIR, BAX and E2F4 gene are the targets of microsatellite instability. Frameshift mutations of the 4 genes play an important role in the development and progression of gastric cancers with microsatellite instability.

Adult ; Aged ; Aged, 80 and over ; China ; E2F4 Transcription Factor ; genetics ; Female ; Frameshift Mutation ; Humans ; Male ; Microsatellite Instability ; Middle Aged ; Polymerase Chain Reaction ; Protein-Serine-Threonine Kinases ; Receptor, IGF Type 2 ; genetics ; Receptors, Transforming Growth Factor beta ; genetics ; Stomach Neoplasms ; genetics ; bcl-2-Associated X Protein ; genetics

OBJECTIVETo evaluate the prognostic significance of metastatic lymph nodes ratio in patients with T(2)~T(3) stage gastric cancer.

METHODSClinical data of 238 patients with T(2)-T(3) stage gastric cancer undergone radical gastrectomy and D(2) lymphadenectomy, at least 15 lymph nodes was dissected per patient, were analyzed retrospectively. Spearman correlation analysis was used to determine the correlation coefficient. Survival was determined by the Kaplan-Meier method and differences were assessed by the Log-rank test. Multivariate analysis was performed using the Cox proportional hazard regression model in forward stepwise regression. Receiver working characteristic curve was used to compare the accuracy of the metastatic lymph nodes ratio in predicting the death of patients 5 years postoperatively and that of metastatic lymph nodes number.

RESULTSThe metastatic lymph nodes ratio didn't correlate with the total number of dissected lymph nodes, whereas metastatic lymph nodes number did. Kaplan-Meier survival analysis demonstrated the metastatic lymph nodes ratio significantly influenced the postoperative survival time and Cox proportional hazard regression model analysis showed the metastatic lymph nodes ratio was an independent poor prognostic factor. There was no significant difference between the area under the receiver working characteristic curve of metastatic lymph nodes ratio and metastatic lymph nodes number in predicting the death of patients 5 years postoperatively.

CONCLUSIONSThe metastatic lymph nodes ratio in T(2)-T(3) stage gastric cancer patients is not correlated with the total number of dissected lymph nodes if at least 15 lymph nodes are dissected. The metastatic lymph nodes ratio is a major independent poor prognostic factor of the patients of T(2)-T(3) stage gastric cancer. The ability of the metastatic lymph nodes ratio in predicting the death of T(2)-T(3) stage gastric cancer patients 5 years postoperatively is the same as that of metastatic lymph nodes number.

Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; pathology ; Male ; Middle Aged ; Neoplasm Staging ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; pathology

OBJECTIVETo explore the optimal treatment selection for treating varicocele (VC) male infertility patients accompanied with oligozoospermia or azoospermia of different Chinese medical syndrome types by comparing the efficacies of integrative medicine.

METHODSOne hundred and twenty male infertility patients with VC accompanied with oligozoospermia or azoospermia were assigned to Chinese medical treatment group (A) and the surgical group (B), each consisting of three Chinese medical syndrome types, i.e., damp-heat stagnation syndrome (DHSS), Shen-deficiency blood stasis syndrome (SDBSS), and blood stasis stagnation syndrome (BSSS), 20 in each group. Corresponding Chinese medical treatment was administered to those in Group A, C, and E, while microscopic ligation of internal vena spermatic was administered to those in Group B, D, and F. The routine analysis of semen, biochemical analysis of seminal plasma, and serum sex hormones (prolactin, testosterone, follicle stimulating hormone, luteinizing hormone, and estradiol) were performed before treatment and by the end of the 24th week after treatment.

RESULTSTotally 18 patients' spouses were pregnant. Of them, 1 in Group A of DHSS (abbreviated as Group A), 3 in Group B of DHSS (abbreviated as Group B), 4 in Group A of SDB-SS (abbreviated as Group C), 5 in Group A of SDBSS (abbreviated as Group D), 1 in Group A of BSSS (abbreviated as Group E), and 4 in Group B of BSSS (abbreviated as Group F). After 24-week treatment, the sperm concentration, class a sperm percentage, class a + b sperm percentage, the motility rate, the seminal plasma of fructose density, and the seminal plasma neutral alpha-glucosidase were more significantly improved in Group B, C, D and F, when compared with the same group before treatment (P <0. 01, P <0. 05). There was no statistical difference in the aforesaid indices between before and after treatment in Group A and Group E (P >0.05). As for the improvement percentage of seminal routine indices, the difference of the seminal plasma of fructose density, and the difference of seminal plasma neutral alpha-glucosidase between before and after treatment in the same Chinese medical syndrome types, better effects were obtained in Group B than in Group A (P <0.01), and better effects were obtained in Group F than in Group E (P <0.01). There was no statistical difference between Group C and D (P >0.05). There was no statistical difference in the 5 items of sex hormones in each group between before and after treatment (P >0.05).

CONCLUSIONSSurgical treatment could effectively improve the semen quality for male infertility VC patients accompanied with oligozoospermia or azoospermia. Of them, Chinese medical treatment could be recommended to those of SDBSS who would not receive surgical treatment.

Adult ; Humans ; Infertility, Male ; diagnosis ; etiology ; therapy ; Integrative Medicine ; Male ; Medicine, Chinese Traditional ; Phytotherapy ; Varicocele ; complications ; diagnosis ; therapy