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 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 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 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.

Aim To express hepatitis C virus glycoprotein E (gE) deleting carboxy-terminal 31 amino acids, and detect anti-E antibody in HCV patients using expressed gE. Methods E gene derived from HCV H strain was inserted into baculovirus transfer vector containing a polyhedrin promotor. The recombinant plasmid was cotransfected into insect cell sf9 with a viral expression vector. The expression of gE was analyzed with Western blot, and the cells were used for dectecting antibodies against E1 and E2 in 35 hepatitis C patients by indirect immunofluorescence. Results A series of proteins with different relative molecular masses(Mr) could be detected by Western blot. Results from indirect immunofluorescence staining showed and only 4 patients were anti-E antibody positive gE was located in cytoplasm. Conclusion HCV gE is expressed successfully in insect cells, the study lay the foundation for further developing HCV vaccine.

Objective To assess the safety and the efficacy of endoscopic ultrasound (EUS)-guided transmural drainage of pancreatic pseudocysts (PPC).Methods A total of 17 patients with PPC who underwent EUS to detect the optimal site and depth of puncture.The needle was punctured into the PPC cavity through endoscopic biopsy hole,cyst fluid was drained with a syringe.The guide wire was inserted along the pinhole under X-ray,and then the needle-knife was sent along the guide wire to cut the gastric wall and pseudocysts wall,followed by balloon dilation.The way of drainage was selected according to the cyst fluid properties.The technical success rate,treatment success rate,complication occurring rate and the skills were evaluated.Results Four patients were with nasalcystic catheter drainage,9 patients with double pigtail stents internal drainage,and 4 patients with nasal-cystic catheter and double pigtail stents combination drainage.The treatment success rates were 3/4,7/9,and 4/4 respectively.Only 1 patient subsequently developed bleeding from puncture site after stent successively placed,and was turned to surgery because of ineffective endoscopic treatment.Infection occurred in 4 patients during drainage,two of those were switched to surgical resection due to poor medical treatment response,and the other 2 were cured with intravenous infusion of antibiotics sensitive to cyst fluid bacteria and metronidazole rinse PPC.The median follow-up duration was 28.5months,and there was none of recurrence.Conclusions EUS-guided transmural drainage of PPC is safe.Stent placement and nasal-cystic catheter play an important role in PPC treatment.

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 investigate the prevalence and clinical characteristics of thyroid dysfunction induced by IFNα therapy in patients with chronic hepatitis.Methods Thyroid function of 310 patients with chronic hepatitis receiving IFNα therapy were evaluated.Results Serum free tri-iodothymnine (F13),free thyroxine(FT4)and sensitive thyroid-stimulating hormone(sTSH)of all patients were normal and TGAb was negative before IFNα therapy.After the treatment,10 patients(10/3 10,3.22%)had thyroid dysfunction,in which 7 were of hypothyroidism and 3 were of hyperthyroidism.The thyroid function of all patients recovered within 1-year follow-up.Conclusions IFNα therapy may induce thyroid dysfunction in patients with chronic hepatitis,in which prognosis can be good when appropriate treatment is given.

Objective The purpose of this study was to evaluate the disinfection effectiveness and properties of acrylic resin via microwave irradiation. Methods Forty acrylic resin base dentures fabricated in a standardized procedure were chosen and divided into Group A,B,C and D randomly. Group A,B and C were immersed in 200ml distilled water and submitted to microwave irradiation at 700W for 3,4,5 minutes individually. Group D was used as positive control. Bacteria specimens from each group were got for culture and numbers were calculated. Then the four groups were tested for the flexural strength and impact strength by universal test machine before and after microwave irradiation sterilization. Results The germicidal ratio of Group B was more than 90% ,while the ratio of group C was 100%. There was no significant difference in flexural strength and impact strength between group C and group D. Conclusions Microwave irradiation for 5 minutes at 700W produced sterilization of dentures contaminated with all bacteria whereas the denture strength is not affected. Microwave irradiation at 700W solution for 5 minutes was effective to sterilize acrylic resin base dentures.