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

The transmission cycle of echinococcosis was established in 1853.More than 160 years have elapsed since Iceland initiated control measures to break the transmission cycle of echinococcosis in 1863.Control plans have been implemented in more than a dozen countries/territories,and lessons have been learned from failures as well as successes.In this review,we fo-cus on the failure experiences,which have also promoted successes in the control of cystic echinococcosis(caused by the para-site Echinococcus granulosus)in regions including Iceland,New Zealand,Uruguay,Wales(England),Turkana(Kenya),and Sardinia(Italy).The causes of the failures were analyzed,and the effects of health education,dog deworming,and con-trol measures for infected animal slaughter on echinococcosis control are comprehensively summarized.However,no suc-cessful experience has been reported in the control of alveolar echinococcosis(caused by the parasite Echinococcus multilocu-laris).On the basis of the biological characteristics of E.mul-tilocularis parasitization in dogs for a duration of 30 days and larvae parasitization in rodents,the fundamental measure for controlling alveolar echinococcosis is administration of monthly deworming treatments to dogs in high prevalence areas.

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 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

Objective To investigate the etiology and clinical symptoms of dural arteriovenous fistula (DAVF) and explore its diagnostic and treatment approaches. Method Of the 19 patients with DAVFs, 17 were examined by the microcather technique under close monitoring by cerebral digital substraction angiography (DSA), and were treated by embolization method with several prepared materials. The other 2 cases were managed by way of compression of the affected carotid artery. Results Of the 19 patients, 10 were cured, and the symptoms of 4 were significantly improved. Four patients showed gradual improvement after treatment, and 1 died. Conclusion The embolization method combined with compression of the affected carotid artery was effective in managing dural arteriovenous fistula.

Objective To investigate the etiology and clinical symptoms of dural arteriovenous fistula (DAVF) and explore its diagnostic and treatment approaches. Method Of the 19 patients with DAVFs, 17 were examined by the microcather technique under close monitoring by cerebral digital substraction angiography (DSA), and were treated by embolization method with several prepared materials. The other 2 cases were managed by way of compression of the affected carotid artery. Results Of the 19 patients, 10 were cured, and the symptoms of 4 were significantly improved. Four patients showed gradual improvement after treatment, and 1 died. Conclusion The embolization method combined with compression of the affected carotid artery was effective in managing dural arteriovenous fistula.

BACKGROUNDTo investigate the correlation of clinical features with pathology in chronic viral hepatitis (CH).

METHODSAnalyses of single factor and multiple factors of serum biochemical indices, imaging examination results, symptoms and signs with degree of pathological lesion of hepatic tissue in 973 cases of CH were conducted. Meanwhile, the hepatic functional index (AAPEA index) was used to investigate the role of serum biochemical indices in diagnosis of CH.

RESULTSIn these patients with CH,the severity of hepatic lesion was closely correlated to symptoms and signs, biochemical indices such as PTA, ALT, TBIL, ALB, A/G, gamma-globulin (gamma-G) by electrophoresis, AST and cholinesterase (CHE) as well as splenic thickness. AST was superior to ALT in reflecting degree of hepatic inflammatory activity. The total mistaken judgment rate of multiple factor analysis was 28.1%. The correlation coefficient of AAPEA index to degrees of hepatic inflammatory activity, fibrosis and pathological grading was 0.559, 0.545 and 0.529, respectively (P<0.000 1)

CONCLUSIONSThe biochemical indices such as PTA, ALT, TBIL, ALB, A/G, gammaG, AST, CHE and the determination of splenic thickness by ultrasonography B could reflect hepatic pathological changes to certain extent. AST was superior to ALT in reflecting degree of hepatic inflammatory activity. Incorrect judgment rate was high in determination of moderate and severe CH by multiple factor analysis. Conformity rate between AAPEA index and pathological diagnosis was better than any of them alone in diagnosing CH.

Adolescent ; Adult ; Aged ; Biopsy, Fine-Needle ; Child ; Child, Preschool ; Female ; Hepatitis B, Chronic ; blood ; diagnosis ; pathology ; Hepatitis C, Chronic ; blood ; diagnosis ; pathology ; Humans ; Infant ; Liver ; pathology ; Liver Function Tests ; Male ; Middle Aged ; Spleen ; diagnostic imaging ; Ultrasonography

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