Objective:To investigate the relationship between DNA methyltransferase (DNMT1) and EZH2 gene expression levels and their clinical significance in patients with acute myeloid leukemia (AML). Methods:The mRNA expression levels of DNMT1 and EZH2 in 50 AML cases and 30 healthy controls were quantified through real-time PCR. The relationship among DNA methyltransferase (DNMT1) and EZH2, clinicopathological factors, and prognosis was analyzed. Results:The mRNA expression of DNMT1 in the AML cases (2.72 ± 0.73) was significantly higher than that in the healthy controls (0.89 ± 0.27) (P<0.01). The mRNA expression of EZH2 in the AML cases (4.39±1.06) was also significantly higher than that in the healthy controls (1.87±0.33) (P<0.01). The expression of DNMT1 was positive-ly associated with that of EZH2 (r=0.51, P=0.002). The expression of DNMT1 was also associated with PB%and WBC≥50 × 109/L (P<0.05). The overall survival of the group with a high-mRNA-expressing DNMT1 was 15 months (95%CI=9-19 months). This period was significantly shorter than that of the group with low-mRNA-expressing DNMT1 (32 months, 95%CI=27-40 months;P=0.006). Conclu-sion:DNMT1 and EZH2 expression levels were downregulated. These levels were associated with poor AML prognosis. The expression of DNMT1 was also positively associated with that of EZH2.

Objective To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results The two patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene. The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion 17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis can be confirmed with gene sequencing of CYP17A1.

Objective To investigate the time-dependent changes in glutamate (Glu) and 7-aminobutyric acid ( GABA) release in the rostral ventromedial medulla in a rat model of incisional pain. Methods Healthy male SD rats weighing 250-300 g were used in this study. Twelve rats in which microdialysis cannulae were implanted in the right rostral ventromedial medulla without neurological deficits were randomly divided into 2 groups ( n = 6 each): group A control and group B incisional pain. In group B an 1 cm long incision was made in the plantar surface of right hindpaw under 1.2% isoflurane anesthesia which was maintained for 5 min. Samples of dialysate were collected before incision (T_0 baseline) and at 3 h, 1 d, 2 d and 3 d after incision was made (T_(1-4)) in both groups for determination of Clu and GABA concentrations (by HPLC). Results In group B Glu and GABA concentrations in the dialysate were significantly increased at 1 d (T_2) and 3 h-3 d (T_(1-4)) respectively as compared with the baseline value at T_0 and were significantly higher than those in group A (control group). Conclusion Incisional pain increases the release of Glu and GABA in the rostral ventromedial medulla which might influence the function of descending pain modulation pathway.

AIM: To investigate the changes of oxidative stress in the kidneys and their roles in nephropathy in diabetic rats. METHODS: Diabetic rats were induced by streptozotocin (STZ). 36 rats were divided into three groups randomly: (1) NC group, normal control rats; (2) DM group, diabetic rats received protamine zinc insulin (PZI) 2U-4U/2 d; (3) DT group, diabetic rats received PZI 9-12 U/kg body weigh/day. 12 weeks later, rats were killed, blood glucose, blood cholesterol, serum creatinine, blood urea nitrogen, HbA1c, urinary creatinine, and urinary protein for 24 h were measured. The activities of antioxidant enzymes in renal cortex, including total superoxide dismutase (TSOD), Cu-Zn superoxide dismutase (Cu-Zn SOD), Mn superoxide dismutase (Mn SOD), catalase (CAT), glutathione peroxidase (GSH-Px), and maleic dialdehyde (MDA) were measured by chromatometry. RT-PCR was performed to detect the expression of different antioxidant enzymes mRNA. RESULTS: For all the targets we measured, there was no significant difference between NC and DT groups. Compared with the other two groups, the levels of blood glucose, cholesterol, trigalloyl glycerol, HbA1c in DM group increased significantly. The activities of TSOD, Cu-Zn SOD and CAT decreased significantly. The activity of GSH-Px increased significantly. There was no significant difference among the activities of Mn SOD in all three groups. The level of MDA in DM group was much higher than that in NC or DT group. The relative expression levels of GSH-Px and Cu-Zn SOD mRNA in DM group were higher than those in other two groups, while the relative expression level of CAT decreased. Mn SOD mRNA was expressed without significant difference in all groups. Compared with NC or DT group, urinary protein in DM group increased significantly, while creatinine clearance rate decreased. CONCLUSIONS: Hyperglycemia affected the expression of antioxidant enzymes. Oxidative stress was caused by hyperglycemia in diabetic rats and may be an important factor in the etiology of diabetic nephropathy.

Objective To study the methods and effect of the surgical treatment for intrahepaticolithiasis(IHL). Methods In recent 12 years, in our hospital,230 cases of IHL were treated by different operations companied with biliary fibrescopy to remove the residnal stones of biliary tract. Results (1) Hepatolobectomy combined with Y-type hepatocholangiojejunostomy was done in 103 cases,the success rate was 91.8%.(2)Y-type hepatocholangiojejunostomy was performed on 45 cases,the success rate was 81.2%.(3)Hepaticolithotomy combined with T-tube drainage was done in 72 cases,the success rate was 69.3%. Conclusions For intrahepaticolithiasis,combination of hepatolobectomy with other operation and with biliary fibrescopy during or after the operation shoul be done, which can effectively improve the curative effect.

Objective To explore the increasing risk of herpes zoster and its possible mechanisms for hematologic disorders treated with arsenic trioxide (ATO). Methods The cases were divided into study group (with ATO) and control group (without ATO). The incidence rate of herpes zoster was compared between the two groups, and then the average cycles of chemotherapy were compared between the patients complicated with herpes zoster or not in study group. Results The rate of herpes zoster was significantly higher in study group than that in control group (χ2 =4.492, P =0.034). The rates of herpes zoster were 23.95 % (23/96) in study group and 7.89 % (3/38) in control groups. Patients in study group with herpes zoster had received 7.60 cycles and those without herpes zoster 7.72 cycles of chemotherapy on average (Z=0.976, P=0.296).Conclusion The risk of herpes zoster complication in hematologic disorders was increased after ATO treatment which probably activated varicella-zoster virus.

Objective To analyze the stability and accuracy of the equipment for three-dimensional ultrasound-based image-guided radiation therapy (3DUS-IGRT) in daily practice, and to provide a basis for clinical application of radiotherapy for soft tissue tumors.Methods A specific calibration phantom was used for continuous calibration and quality control of the 3DUS-IGRT equipment in a year.The method for daily quality control of ultrasound-guided equipment was explored, and its stability and accuracy were monitored.Results The phantom position errors in both Sim and Guide stations of the 3DUS-IGRT equipment were within 1 mm.Conclusions The 3DUS-IGRT equipment has a stable performance with the support of a complete set of stringent and accurate calibration and quality control, which provides a new image-guided method for precise radiotherapy for soft tissue tumors.

AIM: To evaluate the prophylactic effect of aminophylline on the pulmonary hypertension rebound reaction to exposure to NO in the hypoxic pigs. METHODS: The 10 pigs undergone Swan-Ganz catheter, the mPAP was measured with a Physio-recording instrument and PaO 2 was measured with a blood gas analyzer, when breathing NO for 30 minutes and suddenly stopping breathing NO, administing aminophylline 0.25 g, followed by 30 minutes with room air. The respiratory rate and heart rate were also monitorried with a Hewlett-Packard portable monitor. RESULTS: The mPAP of the acute hypoxic pig was induced significantly after breathing 10 -5 NO. When suddenly stopping breathing NO, the induced mPAP became more and more high, the level of the mPAP in 5 minutes was similar to the values before absorbing NO, the mPAP in 10 minutes was higher than values before absorbing NO, while the level of PaO 2 was lower than the values before absorbing NO; but suddenly stopping breathing NO, administing aminophylline, although the induced mPAP became high, the speed was slower than the controls, the level of the mPAP in 30 minutes still was lower than the values before absorbing NO. CONCLUSION: Aminophylline has preventive effects on the pulmonary hypertension rebound reaction to exposure to NO in the hypoxic pigs.

Objective To explore the value of MRI in the diagnosis of fetal aortic arch anomalies. Methods We retrospectively collected 10 fetuses with aortic arch anomalies indicated by prenatal ultrasound and underwent MR examination and were subsequently proven by autopsy or post-birth follow-up from 320 pregnant women. We focused on the observations of the location of the aortic arch and brachiocephalic artery anomalies, the locations of the liver and stomach in the abdominal cavity, and the large vessels in abdomen. The above-mentioned finding were compared with prenatal ultrasound and follow-up findings. Results Of 10 cases, right aortic arch with aberrant left subclavian artery was seen in 7 cases, right aortic arch with the mirror branch, left aortic arch with aberrant right subclavian artery, right aortic arch with aberrant left subclavian artery combined with cervical aortic arch and double aortic arch was seen in 1 case, respectively. All aortic arch anomalies detected by MRI were consistent with post-birth or autopsy findings. Ultrasound misdiagnosed aortic branch malformation in 5 places, which included right aortic arch but misdiagnosed aberrant left subclavian artery in 2 cases, right aortic arch never diagnosed mirror branch anomaly in 1 case, right aortic arch with left subclavian artery misdiagnosed cervical aortic arch in 1 case, left atrial isomerism but misdiagnosed left aortic arch with aberrant right subclavian artery in 1 case;One double aortic arch was misdiagnosed as right aortic arch with aberrant left subclavian artery in ultrasound. Conclusion Fetal cardiovascular MRI is an effective and supplementary examination to complement ultrasound in diagnosis of fetal aortic arch anomalies.

AIM: To explore the pathogenic mechanism of high altitude pulmonary edema(HAPE). METHODS: Haemodynamic changes and effects of 100 percent oxygen breathing were measured by Swan-Ganz thermistor catheters, high altitude healthy volunteers were served as controls. RESULTS: The important features of haemodynamic changes in HAPE: (1)Pulmonary arterial pressure was raised; (2)Pulmonary arterial resistance and cardiac output were raised; (3)Pulmonary artery wedge pressures and right atrial pressure were normal; (4)Pulmonary arterial pressure and resistance were induced by oxygen breathing. CONCLUSIONS: The normal pulmonary artery wedge pressures with a high cardiac output indicated that HAPE was recognized as a form of noncardiogenic pulmonary edema. The pulmonary hypertension may play an important role in the development of HAPE.