Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.

Objective To analyze the relationship between the levels of plasma total homocysteine (Hcy) and umbilical arterial with color doppler ultrasound with the severity of preeclampsia(PE).Methods A total of 70 cases of the third trimester of normal pregnancy, 72 cases of mild PE, and 66 cases of severe PE were selected.Then plasma Hcy levels and umbilical arterial with color doppler ultrasound were detected.Results Hcy levels were statistically significant difference among the normal control group,mild PE group,and severe PE group((8.950±0.585), (11.116±0.615), (14.648±0.620) μmol/L,P＜0.05).Umbilical artery blood flow parameter S/D values in severe PE group was significantly higher in mild PE group and in contrg.1 group (3.43 ±0.72 vs.2.86 ± 0.82 vs 2.75 ± 0.56, P＜ 0.05), while the control group, mild PE group had no significant difference(P＞0.05).Resistance index(RI) ,Pulsatility index(PI) in mild PE group and severe PE group were significantly higher than control group(0.60±0.05,0.78±0.07 vs.0.57±0.06;1.24±0.21,1.47±0.64 vs.0.67±0.35), and the differences among three groups were significant(P＜0.05), while the mild PE, severe PE group had no significant difference(P＞0.05).Hcy of mild PE group was positively correlated with S/D, RI and PI(r=0.548,P=0.009;r=0.587,P=0.008;r=0.324,P=0.02).Hcy of severe PE group was positively correlated with S/D,RI and PI(r=0.752,P=0.001;r=0.627,P=0.003;r =0.438,P=0.024).Hcy and the severity of PE was positively correlated (r =0.450, P ＜ 0.05), S/D and the severity of PE was positively correlated(r=0.316, P =0.002).RI, PI and the severity of PE was no correlation (r =0.024, P =0.726;r =0.054,P =0.649).Conclusion The levels of Hcy and S/D were related to the severity of PE.To reduce Hcy,and monitor S/D were new ways for the diagnosis and treatment of pre-eclampsia.

Objective To analyze the clinical features of patients with IgG4-associated biliary and pancreatic diseases,and to improve the understanding of these diseases.Methods Nine cases of patients with IgG4-associated pancreatitis and cholangitis were analyzed retrospectively,which included clinical manifestations,serological examination,imaging test,pathology,treatment and prognosis.Results Of the 9 patients,8 were male,1 was female,the average age was 61 years old.Four cases were presented with jaundice,2 cases with jaundice and abdominal pain,2 cases with abdominal pain,and 1 case with diabetes.Serum IgG4 levels were 3.46-21.3 g/L (mean 9.743 g/L) in 6 cases,and which were higher than normal value,3 patients did not undergo blood test of IgG4.Nineteen auto-antibodies (including ANCA) were all negative in 9 cases.CA19-9 was increased in 4 cases.CT manifestations showed 5 cases with low density pancreas mass (2 cases with biliary tract dilatation);1 case had pancreas swelling with dilatation of bile duct,and 2 cases with bile duct dilatation only,and CT findings in 1 case were negative.Four patients underwent EUS-FNA,and EUS features included hypoechoic lesions without peripancreatic lymph nodes.FNA results indicated 2 cases with IgG4 related chronic inflammation,2 cases with chronic inflammation with negative IgG4.Seven cases were confirmed to have IgG4 related pancreatitis,and 2 cases with IgG4 related cholangitis.Six patients received glucocorticoid treatment,and the dose ranged from 8-40 mg;3 patients underwent surgery and the surgical pathology indicated IgG4 positive plasma cell.Follow-up showed the serum IgG4 returned to normal,clinical symptoms improved remarkably,and pancreatic mass decreased.Conclusions IgG4 positive plasma cell infiltration is the main feature of IgG4-associated cholangitis and pancreatitis.The diagnosis should combine image,serology with pathology.Glucocorticoid is an effective treatment.

Objective To investigate the relationships between fetal neural tube defects (NTD) and maternal plasma homocysteine (Hcy) level,total nitric oxide synthase (NOS) and inducible NOS (iNOS) activity.Methods A total of 28 pregnant women with clinically or prenatal ultrasound diagnosed NTD offspring in Shihezi City and its surrounding areas of the Xinjiang Uygur Autonomous Region from January 6,2008 to May 23,2011 were enrolled as NTD group.Another 41 normal pregnant women,matched in corresponding area and period,were enrolled as the control group.The plasma level of Hcy was determined by rate method,and the activities of total NOS and iNOS were detected by spectrophotometry.Linear correlation analysis and t-test were used as statistical method.Results The plasma level of Hcy in NTD group was higher than that in the control group with statistically significant difference [(15.2±7.9) μmol/L vs (8.4±3.7) μmol/L,t=4.269,P＜0.01].The activity of total NOS was lower in the NTD group than that in the control group [(20.0±9.0) U/ml vs (26.0±4.1) U/ml,t=3.258],so was the activity of iNOS [(7.5±2.9) U/ml vs (12.0±4.5) U/ml,t=4.670],the differences were statistically significant (both P＜0.01).Linear correlation analysis showed a negative correlation between the level of Hcy and the activity of total NOS (r=0.325,P＜0.01),but no correlation was found with iNOS (r=0.205,P＞0.05).Conclusions High level of Hcy and low activity of NOS and iNOS might be correlated with fetal NTD.

ThemagneticFe3O4nanoparticlesweresynthesizedbyco-precipitationmethod,andthenmagnetic Fe3 O4@Au nanoparticle was synthesized to improve the affinity of particle surface. L-Cys-GA3 was grafted on the surface of gold clad by self-assembly method, and then dropped it on glassy carbon electrode, for further manufacture of MIP/Fe3 O4@Au by using electropolymerzation L-Cys. The surface morphology and particle size distribution of Fe3 O4@Au were studied by TEM. The structure and composition of gibberellins A3, MIP and nMIP were studied by IR. The test system was optimized, and the results showed that when the cycles of electropolymerization was 30, acetic acid:methanol (1:8, V/V) was chosen as eluent, elution time was optimized for 5 min and rebinding time for 7 min, the sensor got a high stability and good recognition ability for gibberellins A3 . The concentration of gibberellins A3 in the range of 1 . 0 × 10-11-1 . 0 × 10-8 mol/L had a relationship with the oxidation peak current of probe, with the detection limit of 2. 57×10-12 mol/L. The sensor was successfully used for the determination of GA3 in beer sample.

Objective To study the expression and interactions of DNA methyltransferase 1 (DNMT1),enhancer of zeste homolog 2 (EZH2) and histone deacetylase 1 (HDAC1) in gastric cancer cell lines and tissue specimens.Methods The expression of DNMT1,EZH2 and HDAC1 was detected at mRNA and protein level in gastric cancer lines MKN28,SGC7901,BGC823,AGS,normal gastric epithelium cell line GES-1 and 10 pairs of fresh gastric cancer tissues and corresponding normal gastric tissues by real-time polymerase chain reaction and Western blot.Whether DNMT1,EZH2 and HDAC1 forming complex or not was detected by co-immunoprecipitation (Co-IP) in well-differentiated gastric cancer cell line MKN28,medium-differentiated gastric cancer cell line SGC7901,lowdifferentiated gastric cancer cell line BCG823,normal gastric epithelium cell line GES-1,mediumdifferentiated,medium to low-differentiated,low-differentiated gastric cancer tissues and corresponding normal gastric tissues.Results Compared with that of normal gastric epithelium cell and gastric tissue,the expression of DNMT1,EZH2 and HDAC1 in gastric cancer cell lines and gastric tissue was higher.The results of Co-IP indicated that DNMT1,EZH2 and HDAC1 formed complex in the high,medium,and poor differentiated gastric cancer cells and the medium,mediumlow,poor differentiated gastric cancer tissues,but not in normal gastric epithelium cell and tissue.Conclusion DNMT1,EZH2 and HDAC1 highly expressed in gastric cancer and there was interaction effects among them,which might be an important mechanism in the correlation between DNA methylation and histone modifications in gastric cancer.

Objective To evaluate the efficacy and safety of endoscopic therapy in the treatment of symptomatic pancreatic divisum (PD).Methods Data of 8 patients who underwent endoscopic retrograde cholangiopancreatography (ERCP) with the diagnosis of pancreas divisum at our institution from June 2006 to June 2013 was retrospectively analyzed.Results The patients were identified as pancreatic divisum with 28 ERCP procedures.All patients received stent placement,7 underwent minor papilla sphincterotomy,6 pancreatic duct stricture dilatation,and 1 stone extraction.Post-endoscopic retrograde cholangiopancreatography pancreatitis occurred in 1 patient,and no other complications occurred.After a follow-up of 2-47 months,1 patient died of pancreatic carcinoma,3 patients removed the stents,3 patients were followed up regularly,and 1 was unavailable for the interview.The episode of chronic pancreatitis and the extent of abdominal pain decreased after the operations.Conclusion Endoscopic therapy is effective and safe for the pancreatic divisum patients.It can reduce the episode of chronic pancreatitis and relieve the chronic abdominal pain in PD patients with low incidence of complication.

ObjectiveTo investigate the clinicopathologic features,therapy,and prognosis of primary small cell carcinoma of the pancreas.MethodsDatabases including Chinese Journal Full-text Database,VIP Database for Chinese Technical Periodicals,Medline/Pubmed,and OVID were searched electronically up to April 2012.A systematic review was performed together with one case in our hospital.ResultsTwenty-eight articles fulfilling the criteria consisting of 46 patients with pathologically confirmed diagnosis of primary small cell carcinoma of the pancreas were studied,together with 1 patient in our Drum Tower Hospital,finally 47patients were included.The results of this systematic review showed:( 1 ) Primary small cell carcinoma of the pancreas was more common in men with a median age of 62.The most common clinical presentations were abdominal pain,jaundice and weight loss.Para-neoplastic syndrome was rarely observed.(2)Most cases were found to have abnormally elevated serum levels of neuron-specific enolase.CT displayed heterogeneous,and marked enhancing masses in most cases.The conclusive diagnosis depended on histological confirmation.(3)63.8％ of the cases were found to be associated with metastasis at the time of diagnosis.The overall median survival time was 28 weeks.(4) There was no consensus on the treatment of primary small cell carcinoma of the pancreas. Chemotherapy was currently considered as the treatment of choice among the systematic management for these patients.ConclusionsPrimary small cell carcinoma of the pancreas was a rare and aggressive neuroendocrine tumor with a poor prognosis.

Objective To evaluate endoscopic ultrasonography (EUS) in assessing endoscopic re-sectability of early esophagogastric cancer. Methods Data of 65 consecutive cases suspected as having early esophagogastric cancer with EUS and confirmed by pathology after endoscopic mucosal resection or endoscop-ic submucosal dissection within 2 weeks were retrospectively analyzed. The invasion depth of the lesion de-tected by EUS was compared with that from pathology. Results The accuracy of EUS in diagnosis of depth of early cancer invasion was 93.8% (61/65), and the overall accuracy in assessment of endoscopic resectabili-ty was 89. 2%. Conclusion Endoscopic resectability of early esophagogastric cancer can be accurately eval-uated with EUS.

Objective To analyze the etiology and clinical features of isolated gastric varices.Methods A retrospectives analysis was carried out in 31 patients with isolated gastric varices between January 2003 and January 2008.The patients records including data of etiology,clinical presentation,imaging studies and therapeutic modalities were reviewed.Results Those who had isolated gastric varices were accounted for 7.38 0A (31/420)of all patients with gastroesophageal varices.The etiologies were left-sided portal hypertension(14 cases,45.2%),liver cirrhosis(8 cases,25.8%),unknown origin(6 eases,19.4%),hepatocellular carcinoma(2 cases,6.5%),portal cavernous transformation(1 case,3.2%).Twenty-one patients(67.7%)had variceal hemorrhage.Splenomegaly was present in 21 cases(67.7%),among which 10 cases(32.3%)had concomitant hypersplenism.Venous involvement was identified in 18 patients(splenic vein obstruction in 9 cases and portal vein involvement in 9 cases).Surgical therapy was performed in 8 cases,selerotherapy in 3 cases,and medical therapy in 20 cases.Conclusions Left-side portal hypertension is responsible for most of the isolated gastric varices,and some of which are also caused by liver cirrhosis.Surgery is the appropriate procedure of choice in management of hemorrhage and recurrence.