1.Screening and genetic diagnosis of neonatal inherited metabolic diseases: present and prospects
Chinese Journal of Perinatal Medicine 2021;24(2):85-88
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.
2.A comparative study on the therapeutic effects of 7 F and 10 F stents on pancreatic pseudocyst
Renling YAO ; Ying LYU ; Guifang XU ; Chenggong YU ; Xiaoping ZOU
Chinese Journal of Digestive Endoscopy 2015;32(8):525-528
Objective To compare the efficacy of stents 7 F and 10 F in drainage of pancreatic pseudocyst via EUS-FNA.Methods A retrospective analysis of patients with pancreatic pseudocyst who received endoscopic ultrasonography guided puncture drainage by using 7 F and 10 F double pigtail plastic stent respectively in Drum Tower Hospital of Nanjing University Medical School from 2010 to 2014 was conducted.Patients' hospitalization period, the time for 50% cyst reduction, removal time, infection rate, and recurrence rate were compared.Results Twenty three patients with pancreatic pseudocyst were included, among whom 14 were male and 9 were female.The age ranged from 13 to 70 with an average of 45.1 years.Eleven patients were treated with 7 F pigtail plastic stents whereas 12 patients with 10 F pigtail plastic stents.All patients were treated with additional 8.5 F joint nose cyst drainage.Four cases in 7 F group got fever, 3 of whom were successful in anti-infection and 1 failed, having to change the stent.One case (9.1%) relapsed without symptoms after 52 months during the follow-up and received no intervention.Five cases in 10 F group got fever, 4 of whom were successful in anti-infection and 1 failed, having to change the stent.One case (8.3%) was identified as mild hemorrhage, and replantation needed to be performed in 1 case (8.3%) because stent was found to slip after 12 days.Two cases (16.7%) relapsed without symptoms after 11 and 24 months respectively and no intervention was received.There was no significant difference in patients' age, cyst size, removal time, infection rate and recurrence rate between the two groups.However, patients in group 10 F had a markedly shorter hospitalization period and time for cyst reduction by at least 50% than those in group 7 F (P < 0.05).Conclusion 10 F double pigtail plastic stents can drain the cyst faster, shorten the hospital stay, but there is no significant difference in infection or recurrence rate of cyst compared with 7 F stents.
3.Clinical analysis of 9 cases of IgG4-associated biliary and pancreatic diseases
Renling YAO ; Guifang XU ; Ying LYU ; Chenggong YU ; Xiaoping ZOU
Chinese Journal of Pancreatology 2015;15(2):97-100
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.
4.Correlation analysis of homocysteine and umbilical arterial with color doppler ultrasound with preeclampsia
Xiaoping SONG ; Yonghui JIAO ; Shuang SUI ; Xiaoying LI ; Ying HUANG
Clinical Medicine of China 2015;31(10):950-953
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.
5.Determination of Trace Gibberellin A3 by Magnetic Self-assembly Molecularly Imprinted Electrochemical Sensor
Lianming ZHANG ; Xiaoping WEI ; Yanxi WEI ; Jianping LI ; Ying ZENG
Chinese Journal of Analytical Chemistry 2014;(11):1580-1585
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.
6.Systematic review of 47 cases of primary small cell carcinoma of the pancreas
Chunyan PENG ; Ying Lü ; Renling YAO ; Zhaomin XU ; Xiaoping ZOU
Chinese Journal of Pancreatology 2012;12(4):226-230
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.
7.Interaction effects of DNA methylation and histone modification key enzymes in gastric cancer
Fuli GAO ; Ying Lü ; Yinxin ZHU ; Jun CAO ; Xiaoping ZOU
Chinese Journal of Digestion 2013;(2):106-110
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.
8.The value of endoscopic therapy for pancreatic divisum
Jing WANG ; Qibin HE ; Yunhong LI ; Ying LYU ; Xiaoping ZOU
Chinese Journal of Digestive Endoscopy 2014;31(6):329-332
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.
9.Study on disinfection effectiveness and properties of acrylic resin via microwave irradiation sterilization
Lilin ZHAN ; Liwei ZENG ; Guimei KANG ; Yuying YING ; Xiaoping HU
Chinese Journal of Practical Nursing 2011;27(5):5-8
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.
10.Relationships between maternal plasma levels of homocysteine, nitric oxide synthase, inducible nitric oxide synthase and fetal neural tube defects
Qiang GU ; Ying LI ; Bo CHEN ; Xiaoping LUO
Chinese Journal of Perinatal Medicine 2013;16(11):673-676
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.