1.Association between interleukin-10-1082 gene polymorphisms and susceptibility of gastric cancer: a meta analysis
Di WU ; Yumin LI ; Wenjuan CAO ; Tao LIU ; Xiangting ZENG
Chinese Journal of Digestive Surgery 2014;13(1):34-38
Objective To assess the association between interleukin-10-1082 (IL-10-1082) gene polymorphisms and susceptibility of gastric cancer in the Chinese population.Methods Cochrane systematic evaluation was adopted for the analysis.Articles published in Medline,Embase,Cochrane library,CBM,CJFD and CSJD from 1966 to 2012 were retrieved.Case control studies on the correlation between the 1L-10-1082 polymorphism and gastric cancer in Chinese population were collected.Gastric cancer patients were in the gastric cancer group,and healthy individuals were in the control group.Two researchers extracted data and evaluated the quality of literatures independently.Meta analysis was performed to detect whether there were differences between the gastric cancer group and the control group about the distribution of genotypes of IL-10-1082 gene (GG,AA,AG,AA,alleles G and A).The heterogeneity was analyzed using the Q test or I2 test.Fixed effect model or random effect model was adopted,and the results of the meta analysis were presented with odds ratio (OR) and 95% confidence interval (95% CI).Results Thirteen literatures including 5252 patients were included in the analysis.There were 2077 patients in the gastric cancer group and 3175 patients in the control group.The results of meta analysis showed that population with the genotypes GG and AG have higher risk of having gastric cancer when compared with population with the genotype AA (OR =1.76,95% CI 1.33-2.33 ; OR =2.08,95% CI 1.62-2.66,P <0.05).Population with the allele G have higher risk of having gastric cancer when compared with population with allele A (OR =1.67,95% CI 1.31-2.13,P < 0.05).Conclusion The genotypes GG,AG and the allele G of IL-10-1082 gcne of the Chincse population are significantly associated with the increased risk of gastric cancer.
2.Control study of behavioral and emotional problem between local children and victimized children migrated out of disaster area one year after earthquake
Gongying LI ; Hongxia MA ; Di QI ; Wenjuan LI ; Ping WANG ; Yanqin DANG
Chinese Journal of Behavioral Medicine and Brain Science 2010;19(11):1016-1018
Objective To explore the behavioral and emotional status of the migrated children one year after they were victimized from earthquake in Wenchuan. Methods 513 victimized children migrated out of disaster area were investigated, with Achenback Child Behavior Checklist ( CBCL), the Screen for Child Anxiety Related Emotional Disorders (SCARED)and Depression Self-rating Scale for Children (DSRSC). The controls were local children ( n = 475 ) coming from the same schools. Results 487 answered files were validated. There were significant differences between the victimized and migrated children and the local children in many scores of CBCL, such as total sores( (26.73 ±6.28)Vs (20.26 ±5.76), t= 16.64, P<0. 01 ) and withdrawal( (3.23 ±1. 68 ) Vs ( 2.02 ± 1.43 ), t = 12.91, P < 0.01 ), somatization complaining( ( 2.79 ± 1. 34 ) Vs ( 1.67 ± 1.22 ), t =13.55, P < 0. 01 ) and anxiety-depression scores ( ( 3.38 ± 1.79 ) Vs ( 1.95 ± 1. 21 ), t = 14.48, P < 0.01 ), as well as its factors such as social problem, attentional problem, attack behavior, internalizing behavior, social communication and school scores. On the SCARED and DSRSC, the two groups were significantly different in total scores of anxiety and depression as well as in such factors as somatization, generalized anxiety, separated anxiety. Conclusion Though migrated out of the earthquake area, the victimised children still suffer obviously from behavioral problems, and anxious and depressive emotion one year after the earthquake.
3.Mechanism of BVT. 2733 and pioglitazone In the improvement of insulin resistance
Yu XIE ; Ting ZHU ; Yi ZHONG ; Juan LIU ; Jing YU ; Juanming ZHA ; Wenjuan DI ; Guoxian DING
Chinese Journal of Internal Medicine 2008;47(11):938-941
Objective To investigate the mechanism of BVT. 2733 on insulin resistance, by using diet-induced obese (DIO) mice model. Methods After having been balanced for 3 days, the C57BL/6J mice were randomly divided into a normal diet group and a high-fat diet (HFD) group. After 20 weeks, the obese mice were further randomly divided into an obese control group, a BVT. 2733 group and a pioglltazone (PGZ) group and they were orally administered with placebo, BVT. 2733 and PGZ separately for two weeks.Adiponectin and leptin mRNA expression levels from adipose tissue were analyzed with real-time quantitative PCR. The levels of plasma glucose, serum insulin and adiponectin were measured with biochemical technology, radioimmunoassay and ELISA. Adipocyte sizes were observed with immunohistocbemistry.Results The body weight, plasma glucose and serum insulin levels raised(P<0.05)in the HFD group and the adipocyte sizes were bigger. Serum insulin levels significantly reduced (P<0.05) and adipocyte sizes reduced, while plasma adiponectin level raised (P<0.01)in the two treatment groups as compared with those in obese controls. Both the mRNA expressions of adiponectin and leptin upregulated(P<0.05)in the PGZ group, but their expressions in the BVT. 2733 group did not alter significantly. The body weight of the mice reduced significantly in the BVT. 2733 group. Conclusion BVT. 2733 can reduce body weight significantly and improve insulin resistance, but cannot influence the expression of adipocytokines.
4.Clinical significance of measuring resting energy expenditure for guiding an accurate nutritional support in elderly bedridden patients with nasal feeding
Kewen MEI ; Wenjuan DI ; Chunmei SUN ; Jing YU ; Qiangwei DONG ; Guoxian DING ; Juan LIU
Chinese Journal of Geriatrics 2015;34(12):1354-1356
Objective To investigate the clinical significance of measuring resting energy expenditure (REE) for guiding an accurate nutritional support in elderly bedridden patients with nasal feeding.Methods The REE of 32 elderly bedridden patients with nasal feeding was assessed by using the Cosmed K4b2 portable telemetric gas analysis system.The waist-hip ratio, serum levels of albumin, transferrin, prealbumin and retinol-binding protein were determined to assess comprehensive nutrition status.The energy intakes were calculated, and the correlation of REE and the difference between the energy intakes and consumption with nutritional index were analyzed.Results The resting energy expendture was lower in the patients with waist-hip ratio≥0.95 than in patients with waist-hip ratio <0.95 (t=3.622, P<0.01).The waist-hip ratio was reduced and serum albumin and transferrin levels were decreased along with the increase of REE in elderly patients (r=-0.55,-0.36 and-0.593, respectively, P=0.001, 0.043, <0.001).The difference between the energy intake and expenditure was higher in patients with waist-hip ratio≥0.95 than those with waist-hip ratio<0.95 (t =5.643, P< 0.001).Serum albumin, prealbumin, transferrin and retinol-binding protein levels were increased along with the increase of the difference between the energy intake and expenditure, which showed the positive correlations (r=0.525, 0.409, 0.624, 0.414, respectively,P=0.002, 0.02, <0.001, 0.019).Conclusions Precise determination of REE and energy intake guided by REE are the important guarantees for the reasonable nutrition support in the elderly.
5.Effects of statin on trabecular bone microstructure in middle and aged people
Aisen ZHANG ; Tingting TANG ; Peng CHENG ; Wenjuan DI ; Yunlu SHENG ; Jinmei CAI ; Bin LAI ; Guoxian DING ; Hanmei QI
Tianjin Medical Journal 2016;44(12):1489-1491,1492
Objective To investigate the effect of statin on trabecular bone microstructure by using trabecular bone score (TBS), a new type of bone microstructure evaluation index. Methods A total of 253 middle and aged patients hospitalized in the First Affiliated Hospital of Nanjing Medical University between January 2014 and March 2016 were retrospectively analyzed. According to whether statin was used or not, patients were divided into two groups: 90 patients in the statin use group (statin was use for more than 1 year) and 163 in the control group (not taken any statin). Serum biochemical indicators, such as triacylglycerol, total cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol, alkaline phosphatase, fasting blood glucose and 25 hydroxy vitamin D, were compared between the two groups. Dual energy X-ray absorptiometry (DXA) was used to measure the bone mineral density (BMD) of lumbar spine and femoral neck. TBS was calculated with TBS iNsight? software, and the DXA image of lumbar spine were analyzed. Results Values of total cholesterol and low density lipoprotein cholesterol were significantly lower in statin group compared with those of control group (P<0.001), while no significant differences in other biochemical indicators between two groups (P>0.05). There was higher lumbar spine BMD statin group compared to that of control group (g/cm2:1.04 ± 0.19 vs. 0.96 ± 0.14, P<0.01). There was higher lumbar spine BMD and higher TBS (1.31±0.09 vs. 1.26±0.09, P<0.01) in statin group than that of control group. There was no difference in the femoral neck BMD between the two groups (P>0.05). Conclusion Statin increases lumbar spine BMD and improves trabecular bone microstructure in middle and aged people.
6.Clinical features and PHKG2 gene mutation analysis of 5 Chinese patients with glycogen storage disease Ⅸc
Diyu ZHOU ; Di FANG ; Wenjuan QIU ; Jun YE ; Lianshu HAN ; Huiwen ZHANG ; Yongguo YU ; Lili LIANG ; Xuefan GU
Journal of Clinical Pediatrics 2017;35(8):609-612
Objective To investigate the clinical, laboratory and genetic features of glycogen storage disease(GSD)IXc. Methods Five patients suspected as liver GSD were included in our study. DNA was extracted from peripheral blood of all the patients and diagnoses were made after target sequencing to nearly 2700 disease causing genes. All detected mutations were confirmed in the probands and their parents. Further analysis was based on clinical features, routine laboratory examinations and treatment. Results All the 5 patients manifested with severe hepatomegaly, hypoglycemia, moderately to severely elevated liver enzyme levels, hypertriglyceridemia and growth retardation. Four cases showed poor exercise tolerance but with normal creatine kinase (CK) levels. None of the patients showed liver cirrhosis. Growth velocity and hepatomegaly was improved after the uncooked corn starch treatment was initiated. In the 5 patients, 6 different pathogenic or likely pathogenic mutations in the PHKG2 gene were identified, including one reported mutation (p.E157K) and five novel mutations (p.E56X, p.R185X, c.79_88delinsTCTGGTCG, c.761delC,p.R279C). The p.E157K was the most frequently mutation identified (6/12, 50%). Conclusions The p.E157K mutation is the hot mutation in our small cohort. Main clinical features of our patients include fasting hypoglycemia, impaired liver function,short statures and poor exercise tolerance, without developing liver cirrhosis.
8. Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy
Jihang LUO ; Wenjuan QIU ; Di FANG ; Jun YE ; Lianshu HAN ; Huiwen ZHANG ; Yongguo YU ; Lili LIANG ; Xuefan GU
Chinese Journal of Pediatrics 2017;55(6):423-427
Objective:
To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability.
Method:
Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene.Five mutant pcDNA3.1-myc-his-GAA expression plasmids(p.G478R, p.P361L, p.P266S, p.Q323X, p.R672Q) were constructed and transient instantaneously transfected into 293T cells to analyze the enzyme activity and stability of GAA.
Result:
All the three children had the onset of disease at 3 years or 1.5 years of age.They presented with developmental delay, muscle weakness and hypertrophic cardiomyopathy.GAA activity of 3 patients was 2.65, 3.55 and 1.51 pmol(punch·h)(8.00-98.02)respectively. Genetic analysis found 5 mutations (p.G478R, p. P361L, p. P266S, p. Q323X, p. R672Q), and all of these 3 cases had clinical manifestations and were diagnosed as late-onset type Ⅱ glycogen storage disease.Five mutant pcDNA3.1-myc-his-GAA expression plasmids were transfected into 293T cells.Five mutant enzyme activities were found to be only 9.9%-22.5% of the wild-type enzyme activity and the protein expression of the five mutants was 32.0%-63.9% compared with the wild type.
Conclusion
This study reports 3 children with late-onset GSD Ⅱ accompanied by hypertrophic cardiomyopathy and compensatory stage of cardiac function in addition to limb muscle weakness.Five pathogenic mutations were identified, and these 5 mutations result in decreased GAA activity and GAA expression by in vitro functional analysis.
9. Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia
Di FANG ; Lili LIANG ; Wenjuan QIU ; Yanjie FAN ; Yu SUN ; Hui YAN ; Yongguo YU ; Xuefan GU
Chinese Journal of Pediatrics 2018;56(6):435-439
Objective:
To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia.
Methods:
Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and follow-up data were retrospectively analyzed. DNA was extracted from peripheral blood and analyzed with whole exome sequencing(WES). All the detected variants were confirmed by Sanger sequencing. Plasma plant sterol concentrations were measured by gas chromatography-mass spectrometry.
Results:
Three cases of children including 1 boy and 2 girls presented with multiple linear and intertriginous xanthomas around skin of the joint areas at the age from 15 months to 6 years and 2 months. Total cholesterol of the 3 cases was elevated to 14.45, 15.47 and 15.85 mmol/L (3.36-6.46), and low density lipoprotein cholesterol was 9.02, 13.54 and 12.47 mmol/L (< 3.36) respectively. Genetic analysis with WES revealed that 2 cases carried compound heterozygous variants in ABCG5 gene, 1 case carried compound heterozygous variants in ABCG8 gene. Two reported variants (p. N437K, p.R446X) and one novel variant (p.Q251X) of ABCG5 were identified in case 2 and 3. Two novel ABCG8 variants (p.R263Q, c.1528_1530delATC) were found in case 1. All these children had extremely high plasma plant sterol levels, thus the diagnosis of sitosterolemia was confirming. The campesterol level was 111.35, 102.86 and 58.91 μmol/L(0.01-10.00), the stigmasterol was 14.97, 29.43 and 17.79 μmol/L (0.10-8.50) and the sitosterol was 231.20, 177.66 and 114.20 μmol/L (1.00-15.00) respectively. The total serum cholesterol levels of three children decreased to nomal after the patients were placed on the low plant sterol/low cholesterol diet. The xanthomas regressed gradually, and almost disappeared after 8 months of treatment in case 1 and 3.
Conclusions
Children with sitosterolemia presented with skin xanthomas around the joint areas. The level of total cholesterol, low density lipoprotein cholesterol and plant sterols increased obviously. One novel variant (p.Q251X) of ABCG5 and 2 novel variants (p.R263Q, c.1528_1530delATC) of ABCG8 were identified. Children with sitosterolemia responded well to a low plant sterols/low cholesterol diet.
10.Research on clinical application of disease management model of individualized stepped-nursing for the patients with type 2 diabetes
Xiaowei JIN ; Kewen MEI ; Xiaomei SHENG ; Chunmei SUN ; Peiwen YU ; Wenjuan DI
Journal of Clinical Medicine in Practice 2014;(22):5-8
ABSTRACT:Objective To assess the effectiveness of the disease management model of stepped-nursing intervention in the metabolic control in patients with type 2 diabetes (DM2). Methods 114 patients with DM2 were randomized in experimental group and control group.The experimental group applied stepped-nursing model while the control group applied conventional nursing.Blood glucose,glycated hemoglobin A1c,body mass index (BMI),waist -hip ratio (WHR),blood pressure,lipids and control criteria were observed.Results BMI,glycated hemoglobin A1c,fasting blood sugar(FBS),triglycerides,systolic blood pressure (SBP)levels and diabetic knowledge score decreased significantly in the stepped-nursing group(P <0.05).The decrease levels in postprandial blood sugar(PBS),diastolic blood pressure (DBP),total cholesterol (TC),LDL cholesterol and WHR reduced,which showed no significant difference(P >0.05). The levels of HDL cholesterol were slightly improved,which showed no significant difference(P >0.05).Conclusion Stepped-nursing model is useful in overall treatment of patients with type 2 diabetes,it improves the condition of glycated hemoglobin A1c,SBP levels FBS and triglycerides and increases the command of diabetic knowledge.