Objective To explore the value of prenatal genetical diagnosis by mutation analysis of achondroplasia (ACH) fibroblast growth factor receptor 3 (FGFR3) gene.Methods Genomic DNA from nine ACH patients and their parents in Gansu Maternal and Child Health Hospital from July,2010 to December,2014 was prepared for polymerase chain reaction.Direct sequencing revealed the samples were performed after amplification of exon 10 of FGFR3 containing the potential mutation.Fetal DNA was extracted from cells in both amniotic fluid and umbilical cord,and then exon 10 of FGFR3 was also tested.Three fetuses with short-limb dysplasia were also included and prenatal diagnosis was offered to them through amniocentesis or cordocentesis.Results Prenatal ultrasonography test showed shorter femoral length,which was less than 2-3 standard deviation of normal reference dysplasia fetal performance for femoral short.Femur length is lower than 2-3 standard deviation minus normal value,and discrepancy in biparietal diameter compared with fetuses at the same gestational age.In the four families with one ACH parent,c.1138G ＞ A heterozygous mutation was detected in all of the four mothers,while two fetuses among them showed c.1138G ＞ A heterozygous mutation mutation and the other two were normal.There were other two fetuses with c.1138G ＞ A heterozygous mutation from other two families,one's father had c.1138G ＞ A heterozygous mutations,but not the mother,the other had c.1138G ＞ A heterozygous mutations in both the mother and father.Among the three families with unaffected parents but each had a de novo c.1138G ＞ A mutation child,no mutation of c.1138G ＞ A genotype was detected in their fetuses,neither in the three fetus with short limb dysplasia.Four fetuses with a c.1138G ＞ A mutation and three with short-limb dysplasia were terminated.The other five fetuses whose genotype was normal were born and healthy with normal phenotype at one-year-old follow-up.Conclusion FGFR3 genetic analysis could provide information for genetic counseling and prenatal diagnosis for ACH parents or parents who had an ACH baby to prevent birth defect.

Ethnicity ; Forensic Medicine ; Humans ; Polymorphism, Genetic

OBJECTIVETo study the antitumor effect of saponin extracted from Tupistra chinensis Baker (STCB) against mouse sarcoma S-180 cell proliferation in vitro and in vivo and explore the primary mechanism of this effect.

METHODSCytotoxic effect of STCB on S-180 cells in vitro was evaluated by MTT colorimetry, and its effect against in vitro tumor growth was tested in Kunmin mice bearing S-180 implanted tumor. The morphological and ultrastructural changes of S-180 cells after saponin treatment in vitro were examined with light and transmission electron microscope. Flow cytometry was performed to examine the cell cycle and apoptosis of S180 cells treated with different concentrations of STCB with propidium iodide staining.

RESULTSSTCB could markedly inhibit S-180 cell proliferation in vitro with 50% inhibitory concentration of 34.64 microg/ml. STCB given by intragastric administration also significantly inhibited the growth of S-180 solid tumor, and the inhibition rate exceeded 30% at the dose of 0.5 g/kg, reaching 54.86% at 2 g/kg. Electron microscopy and flow cytometry revealed increased S180 tumor cell apoptotic rate with the increment of saponin concentration, along with increased percentage of cells in S phase and decreased cells in G(2)/M phase in response to 10 or 30 microg/ml STCB treatment. At the concentration of 60 microg/ml, however, STCB resulted in an opposite effect on the cell cycles, presumably due to its interference with mitosis at high concentrations.

CONCLUSIONSSTCB inhibits the growth of S-180 cells both in vivo and in vitro possibly by inducing cell apoptosis and interfering with the cell cycle progression of the tumor cells.

Animals ; Antineoplastic Agents, Phytogenic ; pharmacology ; therapeutic use ; Apoptosis ; drug effects ; Cell Cycle ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Liliaceae ; chemistry ; Male ; Mice ; Phytotherapy ; Saponins ; pharmacology ; therapeutic use ; Sarcoma 180 ; drug therapy ; pathology

BACKGROUND: Recently, some people believed that the mechanisms of primary hepatic carcinoma might be caused by poor differentiation or disdifferentiation of hepatic stem cells. Studies on hepatic stem cells are in the early stage at present, and the theory of "stem cell origins" of human primary hepatic carcinoma deserves further verification. OBJECTIVE: To investigate the activation, distribution, origin and immunological expression characteristics of hepatic stem cells in different histopathologic types of primary hepatic carcinoma. DESIGN: Observational comparative study. SETTING: Tumor Center, Research Institute of Surgery, Daping Hospital, Third Military Medical University of Chinese PLA. PARTICIPANTS: Experiments were performed at the Laboratory of Tumor Center, Research Institute of Surgery, Daping Hospital, Third Military Medical University of Chinese PLA from September 2003 to July 2004. We took 94 cases of hepatic cellular cancer, 12 cases of intrahepatic cholangiocellular carcinoma and 10 cases of mixed hepatocarcinoma paraffin-embedded tissue blocks as research objects, with 5 cases of liver cirrhosis and 4 cases of normal liver as experimental control. These materials were collected from the archive of the Department of Pathology of Daping Hospital. Primary hepatic carcinoma tissues and corresponding adjacent liver tissues were obtained from patients who had undergone surgery for the removal of their tumors. All the patients were not treated by chemotherapy or radiotherapy before the operation. They had signed the informed consent. Main Antibodies were bought from Santa Cruz Company.METHODS: The histological and immunohistochemical characteristics were examined by haematoxylin and eosin staining and immunohistochemistry (SP method), including mouse antihuman cytokeratin 19 monoclonal antibody, mouse antihuman cytokeratin 7 monoclonal antibody, mouse antihuman cytokeratin 8&&18 monoclonal antibody, mouse antihuman c-kit monoclonal antibody, mouse antihuman Thy-1 monoclonal antibody, mouse antihuman alpha fetoprotein monoclonal antibody. MAIN OUTCOME MEASURES: Expression of immunological markers of hepatic stem cells in different histopathologic types. RESULTS: Immunological markers of hepatic stem cells expressed variously in different histopathologic types of primary hepatic carcinoma. Hepatic stem cells differentiated into hepatoma carcinoma cells in all the types. The highest expression rate of hepatic stem cell immunophenotype was found in the mixed hepatocarcinoma (P < 0.05). Immunophenotypes of hepatic stem cells were negative in normal group and cirrhosis group. CONCLUSION: Hepatic stem cells of varied differentiations and origins existed in different histopathologic types of primary hepatic carcinoma.

OBJECTIVETo clarify the diagnosis of one suspected case of diphtheria in Guangdong province by epidemiological analysis and etiologic detection.

METHODSOn July 6th 2010, the corynebacterium diphtheria was detected from the nasal secretions of one nasopharyngeal carcinoma patient in a college-town hospital in Guangzhou City, Guangdong Province. The patient and the close contacts were asked to participate in the epidemiological survey; and their nasopharyngeal swabs (3 samples) and the nasal secretions of the patient (1 sample) were collected. The bacteria of the samples were isolated and cultured by blood plate and agar loefflera. The smears of positive strains were dyed and identified by BioMerieux API Coryne biochemical card. Gene tox of β-Corynebacteriophage, Corynebacterium diphtheriae was tested by PCR method, the aliphatic acid was analyzed by gas chromatography method and the Corynebacterium diphtheriae (CMCC 38009) was selected as positive control.

RESULTSThe patient had not gone out, neither had been visited. The patient denied history of vaccines or the immunizations. From the survey on patient's family members and close contacts, no similar symptoms had been found. One strain of Corynebacterium diphtheriae was isolated from the patient's nasal secretions, Gram positive and shape diversified. After cultured by agar loefflera and Gram-dyed and Neisser-dyed, one end or both two ends of the strain showed typical metachromatic granule. API Coryne was identified to Corynebacterium diphtheriae mitis/belfanti (99.4%). The result of gas chromatography method also indicated Corynebacterium diphtheriae. No Corynebacterium diphtheriae was isolated from the nasopharyngeal swabs, neither of the patient nor of the close contacts. The gene tox of β-Corynebacteriophage, Corynebacterium diphtheriae was negative according to the PCR test.

CONCLUSIONThe isolated Corynebacterium diphtheriae did not produce toxin as there was no biological structure gene of toxin. The patient was a health carrier of nontoxic Corynebacterium diphtheriae.

China ; epidemiology ; Corynebacterium diphtheriae ; isolation & purification ; Diphtheria ; epidemiology ; microbiology ; Female ; Humans ; Middle Aged ; Nasopharynx ; microbiology ; Polymerase Chain Reaction ; methods

OBJECTIVETo investigate the regulatory effect of the nonsteroidal anti-inflammatory drug NS398 on the expression of the RECK gene in the animal model of prostate cancer.

METHODSNude mouse models of prostate cancer were divided into an experimental and a control group, the former fed with NS398 at 0.1 mg/g per day for 10, 20 and 30 days, while latter left without medication. All the mice were killed at 30 days, the mRNA expressions of RECK and MMP-9 in the tumor tissues measured by RT-PCR, and the protein level of RECK evaluated by Western blot.

RESULTSBoth the mRNA and protein expressions of RECK were increased, while the level of MMP-9 decreased, in an obviously time-dependent manner in the experimental group as compared with the control.

CONCLUSIONNS398 obviously inhibits the pathogenesis and metastasis of prostate cancer, which may be attributed to its induction of the expression of the RECK gene and suppression of the expression of MMP-9.

Animals ; Anti-Inflammatory Agents, Non-Steroidal ; pharmacology ; GPI-Linked Proteins ; metabolism ; Gene Expression Regulation ; drug effects ; Humans ; Male ; Matrix Metalloproteinase 9 ; metabolism ; Mice ; Mice, Nude ; Nitrobenzenes ; pharmacology ; Sulfonamides ; pharmacology ; Tumor Cells, Cultured

Cell Line ; Cytotoxicity, Immunologic ; Hepatitis B ; immunology ; Histocompatibility Antigens Class I ; blood ; Histocompatibility Antigens Class II ; blood ; Humans ; Killer Cells, Lymphokine-Activated ; immunology ; Lymphocytes ; immunology ; T-Lymphocytes, Cytotoxic ; immunology

OBJECTIVETo investigate the aberrant promoter methylation of hMLH1 gene promoter and its clinical significance in papillary thyroid cancer (PTC).

METHODSmethylation of hMLH1 gene promoter in the cancer tissue and matched tumor-adjacent normal tissue of 152 PTC patients were detected by real-time methylation specific PCR (qMSP). The relationship between the methylation of hMLH1 gene promoter and clinicopathological features was analyzed.

RESULTSThe methylation rate of hMLH1 gene promoter in cancer tissues was 37.5% (57/152), of which 33 cases were totally methylated and 24 cases were partially methylated. The methylation rate of adjacent normal tissues was 5.3% (8/152)(all were partially methylated). The methylation rate of PTC tissues was significantly higher than that in the tumor-adjacent normal tissue (P < 0.01). The promoter methylation of hMLH1 gene in PTC was significantly correlated with age, size and number of the primary lesion, local invasion, T stage and lymph node metastasis (P < 0.05) , but not correlated with gender and clinical stage (P > 0.05).

CONCLUSIONPromoter methylation of hMLH1 gene is a common molecular event in PTC tissue, and it is significantly correlated with the progression of PTC.

Adaptor Proteins, Signal Transducing ; genetics ; metabolism ; Adolescent ; Adult ; Age Factors ; Aged ; Carcinoma ; genetics ; metabolism ; pathology ; Carcinoma, Papillary ; DNA Methylation ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Lymphatic Metastasis ; Male ; Middle Aged ; MutL Protein Homolog 1 ; Neoplasm Invasiveness ; Neoplasm Staging ; Nuclear Proteins ; genetics ; metabolism ; Promoter Regions, Genetic ; genetics ; Thyroid Neoplasms ; genetics ; metabolism ; pathology ; Tumor Burden ; Young Adult

OBJECTIVETo clarify three-grade criteria of curative resection for primary liver cancer (PLC) and evaluate their clinical significance.

METHODSCriteria of curative resection of PLC were summed up to three grades. Grade I: complete removal of all gross tumors with no residual tumor at the excision margin. Grade II: on the basis of Grade I, there was no extrahepatic metastasis, no hilar lymph node metastasis, no tumor thrombus in the main trunks and their primary tributaries of the portal vein, common hepatic duct, hepatic vein and vena cava inferior, and the tumor was not more than two in number. Grade III: in addition to the above criteria, AFP dropped to normal level (in patients with elevated AFP before surgery) within 2 months after operation, and no residual tumor upon diagnostic imaging. A total of 354 cases with PLC who had their liver resected was reviewed. Patients in each grade were divided into two portions depending on whether the treatment was curative or palliative.

RESULTSThe survival of patients receiving curative treatment was better than those receiving palliative treatment (P < 0.01). This was true for patients whose treatment belonged to anyone of the three-grade criteria. The survival was improved along with the promotion of curative criteria used. The 5-year survival rate of Grade I, II and III patients undergone curative resection was 43.2%, 51.2% and 64.4%, respectively (P < 0.01).

CONCLUSION1. The three-grade criteria may be used for judging the radicality of tumor resection for PLC. 2. The more stringent the criteria used, the better the survival would be. 3. Adopting high-grade criteria to select cases, to guide operation and postoperative follow-up would improve the results of liver resection for PLC.

Female ; Hepatectomy ; methods ; Humans ; Liver Neoplasms ; mortality ; surgery ; Male ; Middle Aged ; Survival Rate

OBJECTIVETo assess the efficacy and safety of azosemide in patients with edema and ascites.

METHODSA multicentral, randomized, double-blind, controlled clinical trial was applied. All 223 patients (cardiac edema 92, hepatogenic edema 63, renal edema 68) were randomized to azoesmide and furosemide group, and all patients were treated for 2 weeks. Patients with cardiac or renal edema took azosemide (30 mg/d) or furosemide (20 mg/d); patients with hepatogenic edema took azosemide (60 mg/d) or furosemide (40 mg/d). The dosage were adjusted to azosemide 60 mg/d (cardiac, renal edema), 90 mg (hepatogeic edema); or furosemide 40 mg/d (cardiac, renal edema), 60 mg (hepatogeic edema), if diuretic effects were not obtained at the end of third day.

RESULTSAt the end of the study, the weight changes were (2.87+/-3.10) kg and (2.81 +/-2.84) kg; the total effective rate of edema lessen was 89.19% and 89.81%; the total effective rate of heart function improvement was 64.44% and 66.66%; the 24 h urine output increased (321.85 +/-669.52) ml and (273.80 +/-645.72) ml for azosemide and furosemide, respectively. The total effective rate of ascites lessen (tested by B-ultrasound) was 89.28% and 86.66%; abdominal girth decreased (5.20 +/-3.58) cm and (5.03 +/-3.74) cm for azosemide and furosemide, respectively. The adverse event rate was 23.01% in azosemide group and 21.01% in furosemide group; the main adverse effects were hypokalemia, hyperuricemia, hypertriglyceridemia and thirsty.

CONCLUSIONAzosemide could effectively lessen edema, improve heart function and decrease ascitesûit is well tolerated and is particularly useful for the diuretic treatment.

Adolescent ; Adult ; Aged ; Ascites ; drug therapy ; etiology ; Diuretics ; adverse effects ; therapeutic use ; Double-Blind Method ; Edema ; drug therapy ; etiology ; Edema, Cardiac ; drug therapy ; etiology ; Female ; Heart Failure ; complications ; Humans ; Kidney Diseases ; complications ; Liver Cirrhosis ; complications ; Male ; Middle Aged ; Sulfanilamides ; adverse effects ; therapeutic use