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.

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 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.

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.

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.

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.

Objective To investigate the pathological features of gastro-esophageal high-grade intraepithelial neoplasia (HGIEN) confirmed by biopsy and to compare the differences of its diagnosis after endoscopic resection. Methods Data of 147 patients with gastro-esophageal HGIEN confirmed by biopsy, who underwent EMR or ESD in recent 4 years were analyzed for the pathological findings of pre- and post- procedures. Results Among 147 cases of HGIEN diagnosed by endoscopic biopsy, 106 lesions were in esophagus and 41 in stomach. After endoscopic resection, intraepithelial neoplasia was confirmed in 97 (66%), and cancer was diagnosed in 50 (34%), of which submucosal layer was involved in 11. There were 34 cases of adenocarcinoma and 16 squamous cell carcinomas, in which 22 cases (44%) were poorly or moderately differentiated. Conclusion More than one third cases of biopsy diagnosed HGIEN are confirmed to be carcinoma after endoscopic resection, which needs active therapeutic measures.

Objective: To express mSDF-1?/GM-CS fusion protein in the Pichia pastoris expression system and investigate its in vivo promoting effects on hematopoiesis function and immune function.Methods: The mSDF-1?/GM-CS fusion gene was chemically synthesized and was cloned into pichia expression vector;the vector was then transfected into Pichia pastoris expression system.Then the expressed products were detected by SDS-PAGE,Western blotting and purified by ion exchange columns.Rat irradiation model was established by 60Co ? ray and were subcutaneously injected with the fusion protein.The hematopoietic and chemotactic activities of the fusion protein were investigated in vivo.Results: The expression vector pPIC9K-SDF1-L-GM-CSF was successfully constructed,and mSDF-1?/GM-CS fusion protein was successfully expressed by Pichia pastoris strain GSl15.The molecular weight of the protein was about 32000 D,with a concentration of 78 ng/ml.The numbers of bone marrow mononuclear cells and GM-CFU were significantly increased in rats after subcutaneous injection of the fusion protein(P