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.

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

Based on standard carotid endarterectomy, we performed modified carotid endarterectomy in two cases of carotid artery stenosis by changing the direction of the carotid artery incision to avoid restenosis of the internal carotid artery without using a patch. The two patients recovered smoothly without any complications. Compared with eversion or patch endarterectomy, this modified carotid endarterectomy avoids restenosis of the carotid artery and shortens operation time.

OBJECTIVEQuantitative study of the effect of anti-human VEGF mAb E11 to VEGF level in serum of nude mice transplanted buccal carcinoma.

METHODSE11 was administered into BALB/c nu/nu mice which were transplanted human buccal carcinoma. The saline was administrated as negative control. Mice were killed at 18 days. The VEGF level in serum of mice was determined by improved indirect ELISA.

RESULTSCompared with the VEGF level in serum of mice in saline group, it was dramatically decreased in E11 group. The VEGF level in serum of mice treated E11 by subcutaneous was lowest and only reached (1.17 +/- 0.13) microg/L.

CONCLUSIONIt demonstrated that the anti-human VEGF mAb could reduce the VEGF level in serum by binding VEGF, and block its biological activity. It indicates that VEGF in serum of malignant tumor patient is a new tumor marker.

Animals ; Antibodies, Monoclonal ; pharmacology ; Biomarkers, Tumor ; blood ; Carcinoma ; blood ; Humans ; Mice, Inbred BALB C ; Mice, Nude ; Mouth Mucosa ; pathology ; Neoplasm Transplantation ; Neoplasms ; blood ; Vascular Endothelial Growth Factor A ; blood