To explore whether the imprinting status of IGF-2 in the malignant epithelial ovarian tumors is different from that in benign tumors, the target sequences (DNA and RNA) which contain a polymorphism site for ApaI restriction endonuclease digestion were amplified with PCR and RT-PCR methods. Then the PCR/RT-PCR products were digested by ApaI. The IGF-2 transcriptional pattern came out from the results of endonucleases digestion. Among the 36 cases of benign epithelial ovarian tumors, 20 were heterozygous for ApaI locus and all showed genomic imprinting. While in the malignant group, 22 were heterozygous for ApaI locus but six were found to lose imprinting. Significant differences existed between the two groups (P < 0.05). Loss of imprinting of IGF-2 may serve as a marker for differentiating the malignant ovarian cancers from the benign ones. In a new field of molecular genetics, our research provides an experimental basis for genetic diagnosis and treatment of the ovarian cancers.
Cystadenocarcinoma, Serous/*genetics ; Cystadenoma/genetics ; *Genomic Imprinting ; Insulin-Like Growth Factor II/*genetics ; Ovarian Neoplasms/*genetics

Objective To investigate the distribution of five indicators of hepatitis B(HBV-M)and its relationship with liver function parameters and HBV-DNA load in patients with chronic HBV infection in different stages.Methods The serum samples were collected from 456 patients infected with HBV.The HBV-M,liver functional parameters and HBV-DNA level were quantita-tively detected.According to the stages of disease,the patients were divided into 3 groups including chronic hepatitis B group(inclu-ding mild subgroup,moderate subgroup and severe subgroup),liver cirrhosis group(including compensatory subgroup,decompen-sated subgroup)and hepatocellular carcinoma goup.Results The ratio of HBsAg,HBeAg,HBcAb positive pattern(135 pattern) and HBsAg,HBeAb,HBcAb positive pattern(145 pattern)in the three groups were statistically different(P <0.05).In each chron-ic hepatitis B subgroup,both ALT and AST levels of 135 pattern were significantly higher than the other two patterns(P <0.05). In each liver cirrhosis subgroup and hepatocellular carcinoma group,there were statistically significant differences in ALB and TBIL levels between the three patterns(P <0.05 ).In each group,the HBV-DNA level of 135 positive pattern were significantly higher than the other two patterns(P <0.05).Conclusion With the advancement of chronic hepatitis B,there is a downtrend in the ratio of 135 pattern and increasing trend in the ratio of 145 pattern.If the stage of hepatitis B is discriminated,ALT,AST,ALB TBIL and HBV-DNA level were closely related to HBV-M pattern.

OBJECTIVE To investigate the clinic significance of screening high risk human papillona virus DNA(HR-HPV-DNA) in pregnant and postpartum women.METHODS HR-HPV-DNA screening was carried by HC-Ⅱ in 711 pregnant and postpartum women.RESULTS In 711 specimens,the infection rate of HR-HPV was 15.07%,15.92% in pregnant women,and 10.11% in postpartum ones;13.43% in the group

Objective To identify the genetic mechanism of fetuses with short limbs deformity.Methods From Aug.2008 to Aug.2011,ten fetuses with obvious short limbs were found in ultrasound screening performed at 18-24 and (or) 30-32 gestational weeks and underwent artificial induced labor with the patient' consent.Amniotic fluid or cord blood of the fetuses was collected for karyotyping analysis and detection of mutation point of fibroblast growth factor receptor 3 (FGFR3)gene by polymerase chain reaction and gene sequencing.One fetus (case 3) who presented with achondrogenesis underwent sequencing of SLC26A2 and Trip11 gene meanwhile.Results Among the 10 fetuses with short limbs deformity,five cases were found during second trimester and five during third trimester.Nine cases were identified as normal karyotype and one was chimera (46,XY/45,XY,- 18).One fetus carried a rare FGFR3 mutation of c.1108G＞T (G370C) and was diagnosed as thanatophoric dysplasia at 21+3 weeks.Three fetus carried c.1138G＞A (G380R) mutation and were diagnosed as achondroplasia.These four families had low recurrent risk because no gene mutations were found in the parents.Three mothers of these four fetuses were pregnant again and had normal neonates now.No mutations were found in all gene sequencing in case 3.Conclusions Karyotyping analysis and sequencing of FGFR3 gene could find causative gene mutations and provide genetic counselling and prenatal diagnosis for some fetuses with short limbs deformity.In the third trimester,achondroplasia is the most possible diagnosis when short limbs fetus is found by ultrasound.

A 57-year-old man was admitted to the hospital for a 7-year progressively spreading plaques involving the entire body surface, and multiple irregularly sized red nodules and infiltrated patches on the face, trunk and limbs. Histopathological examination showed pleomorphic tumor cells diffusely dis-persed throughout the dennis, giving an appearance of low proliferation. Some cells with cytoplasmic pro-cesses appeared multiangular in shape, lmmunohistochemically, tumor cells were negative for CDla or S-100, but positive for CD45, FXIIIa, CDl4, MHC- Ⅱ, CD68 and lysozyme with extracellular interstitial expression. Ultrastructurally, the cells exhibited cytoplasmic processes and irregularly sized nuclei; no Birbeck granules were observed. Vesicules of low electron-density were seen diffusely in cytoplasm and extracellular matrix. The case is herein diagnosed as cutaneous non-Langerhans cell histiocytosis, which presents with a chronically invasive clinical course. These cells may develop from immature dermal dendritic cells.

Objective To evaluate the effects of hyperbaric oxygen (HBO) combined with drug therapy on patients with delayed encephalopathy caused by carbon monoxide poisoning ( COP). Methods Twenty to forty sessions of HBO therapy were used to treat 34 COP patients. Assessment relied on 99mTc-ethyl cysteinate dimer (~(99m)Tc-ECD) single photon emission computed tomography (SPECT) imaging of cerebral perfusion before and after treatment. Results After HBO therapy, cerebral perfusion in the COP patients improved significantly. There was a significant difference of the SPECT images before and after treatment. Conclusions SPECT imaging of cerebral perfusion can play an important role in the diagnosis of delayed encephalopathy caused by carbon monoxide poisoning, and it can be used for the therapeutic surveillance of HBO treatment.

Objective To observe the serum γ-glutamyltransferase (γ-GGT) levels in patients with chronic hepatitis B virus (HBV) infection in different immune status and investigate their relationship with HBV DNA loads and ALT levels. Methods Blood samples were collected from 191 patients with chronic HBV infection in different immune status, including inactive HBV carrier state (group B,n = 55), immune tolerance phase (group C, n=47), HBeAg-negative CHB (group D, n =17), immune-reactive phase (group E, n=72) and 61 healthy individuals ( group A) for the detection of the serum γ-GGT, ALT level and HBV DNA loads. Results γ-GGT level were obviously higher in groups D and E than those in groups of A, B and C (P<0.01). Correlation analysis showed that the γ-GGT levels were positively correlated with serum ALT , AST levels in HBeAg-negative CHB and immune-reactive phase , but not correlated with HBV DNA loads. Conclusions The levels of γ-GGT are different during different immune status in patients with chronic HBV infection. The increased serum γ-GGT level may be an indicator for patients with chronic HBV infection entering immune active phase. The liver inflammation is the major impact factor to the γ-GGT levels.

Objective To explore the diagnostic value of carcinoembryonic antigen(CEA),adiponectin combined with leptin in colorectal cancer.Methods The case control study was adopted.Forty cases newly diagnosed as colorectal cancer were selected.Forty cases of non-colorectal cancer were selected according to 1 ∶ 1 matching proportion.Serum levels of CEA,adiponectin and leptin were measured in the study subjects.The ROC curve was used to evaluate the diagnostic value of adiponectin combined with leptin for colorectal cancer.Results Serum level of adiponectin in the experimental group was lower than that in the control group,while the CEA and leptin levels were higher than those in the control group,the difference between the two groups was statistically significant(P＜0.05).The area under the curve of adiponectin combined with leptin reached 0.714±-0.058,its specificity and sensitivity were 77.5 ％ and 65.7 ％ respectively.The area under the curve of adiponectin,leptin combined with CEA reached 0.818 ±-0.048,its specificity and sensitivity were 82.5 ％ and 89.5 ％ respectively.The cut-off values of leptin and adiponectin were 11.53 μg/mL and 9.08μg/mL respectively.Conclusion The combined screening of CEA,adiponectin and leptin can significantly improve the detection rate of colorectal cancer.

In situ hybridization was applied to locate and detect the expression of p57KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23 cases). The positive signals of p57KIP2 expression were analyzed by HPIAS-1000 Image-Analysis System. p57KIP2 was highly expressed in normal villi but showed distinct low expression in hydatidiform mole (P < 0.01). Furthermore, the locus of low expression of p57KIP2 accorded with the place where lesion of trophoblast occurred. Detection of p57KIP2 made it possible to study the genetics of hydatidiform mole at the transcriptional level. Low expression of p57KIP2 could be a molecular marker in hydatidiform mole and a target for therapy.
Cyclin-Dependent Kinase Inhibitor p57 ; Cyclin-Dependent Kinases ; antagonists & inhibitors ; Enzyme Inhibitors ; metabolism ; Female ; Genomic Imprinting ; genetics ; Humans ; Hydatidiform Mole ; genetics ; metabolism ; Nuclear Proteins ; biosynthesis ; genetics ; Placenta ; metabolism ; Pregnancy ; RNA, Messenger ; biosynthesis ; genetics ; Uterine Neoplasms ; genetics ; metabolism

To explore whether the imprinting status of IGF-2 in the malignant epithelial ovarian tumors is different from that in benign tumors, the target sequences (DNA and RNA) which contain a polymorphism site for ApaI restriction endonuclease digestion were amplified with PCR and RT-PCR methods. Then the PCR/RT-PCR products were digested by ApaI. The IGF-2 transcriptional pattern came out from the results of endonucleases digestion. Among the 36 cases of benign epithelial ovarian tumors, 20 were heterozygous for ApaI locus and all showed genomic imprinting. While in the malignant group, 22 were heterozygous for ApaI locus but six were found to lose imprinting. Significant differences existed between the two groups (P < 0.05). Loss of imprinting of IGF-2 may serve as a marker for differentiating the malignant ovarian cancers from the benign ones. In a new field of molecular genetics, our research provides an experimental basis for genetic diagnosis and treatment of the ovarian cancers.
Cystadenocarcinoma, Serous ; genetics ; Cystadenoma ; genetics ; Female ; Genomic Imprinting ; Humans ; Insulin-Like Growth Factor II ; genetics ; Ovarian Neoplasms ; genetics