Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C?>?T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identiifed. Conclusions The diagnosis of chronic granulomatous disease is conifrmed in this child. It is caused by CYBA gene mutation.

Objective To retrospectively study the results of endoscopic manifestation pathology,and treatment of colonic polyps. Methods Clinical data of 121 patients diagnosed with colonic polyps and treated by endoscopy between November 2002 and September 2009 were studied. Complete colonic investigation was done by Olympus PCF240I electron endoscopy. Colonic polyp excision was done by high frequency electric coagulation. Results All patients had bloody stool with mucus for 1 week to 8 years. Ninty four(77.7%)patients had a single polyp,6(5.0%)had two polyps,21(17.3%)with multiple polyps,and 5 patients had familial polyposis coli. The size of the polyps ranged from 0.3 cm to 4 cm and the morphology of Yamada Ⅰ to Ⅳ. The pathological changes were juvenile polyps,inflammatory polyps,polypoid formation,and canalicular adenoma. Most common pathology types were Yamada Ⅳ and juvenile polyps,107 of the 121 patients(88.4%)had juvenile polyps,and one was found to have malignant transformation. 115 patients accepted high frequency electric coagulation excision under general anesthesia,without complication. Conclusions Colonic polyp is one of the common diseases in children. Children should be checked by total colonoscopy in time when they present with bloody stool,anemia,rectal polyps prolapse or intussusception. Polypectomy under endoscope is a most safe and reliable treatment method when the diagnosis is confirmed. For isolated juvenile polyp,regular recheck is not necessary after polypectomy except when bloody stool recurs. Regular follow up by colonoscope is necessary for juvenile polyp combined with adenoma and adenomatous polyps. Colonoscope is necessary at any time when bloody stool occurs. Familial polyposis coli is difficult to be treated by endoscopy,thus surgical procedure is suggested.

Objective:To analyze influence factors in patients with acute myocardial infarction (AMI) undergoing e‐mergency percutaneous coronary intervention (PCI ) .Methods:Clinical data of 656 patients ,who received emer‐gency PCI because of AMI in our hospital from Jan 2005 to Jan 2015 ,were retrospectively analyzed .Short -term prognosis ,including incidence rates of heart failure (HF) ,cardiogenic shock (CS) ,arrhythmias and mortality , were compared and analyzed among these patients from onset related factors ,coronary disease and vascular reope‐ning time etc .Results:Mean onset age of men was significantly younger than that of women (P<0.05) .Incidence rate of AMI in winter and spring was significantly higher than those in summer and autumn (χ2 = 6.244 , P=0.012) .According to complicated with hypertension ,DM ,dyslipidemia and smoking or not ,patients were divided into corresponding disease group and normal group ;only incidence rates of CS (37.78% vs .29.62% ) and arrhyth‐mia (47.78% vs .38.24% ) in DM group were significantly higher than those of non -DM group ,mortality rate of dyslipidemia group was significantly lower than that of normal blood lipid group (0.73% vs .3.69% ) , P<0.05 or< 0.01 ,there were no significant difference in incidence rates of other events between normal group and disease group (P>0.05 all) .Incidence rate of arrhythmia in RCA group was significantly higher than those of LAD group , LCX group and multi -vessel group (56.36% vs .31.55% ,37.50% ,34.38% ) ,mortality of LM group was signifi‐cantly higher than those of LAD group ,RCA group and LCX group (25.00% vs .1.79% ,0.91% ,0% ) , P<0.05 or <0.01. Incidence rate of HF in 10~12h group was significantly higher than those of 0~3h ,4~6h and 7~9h group (79.46% vs .61.70% ,66.81% ,64.78% ) ,incidence rate of arrhythmia was significantly lower than those of 0~3h ,4~6h and 7~9h group (32.14% vs .55.32% ,43.81% ,44.65% ) ,and incidence rate of CS was significant‐ly higher than that of 0~3h group (35.27% vs .21.28% ) , P<0.05 or <0.01. Conclusion:Onset age ,season and DM ,coronary disease extent ,vascular reopening time are risk factors influencing short‐term prognosis of AMI .

OBJECTIVE:To observe the efficacy and safety of Guizhi fuling capsule combined with mifepristone in treatment of uterine fibroids. METHODS:116 patients with uterine fibroids were randomly divided into control group and observation group. Control group was orally given Mifepristone tablet 25 mg,2 h before meal in the first day of menstrual period,once a day,for con-tinuous 10 d;observation group was additionally given Guizhi fuling capsule 3 pills in non-menstrual period,3 times a day. 3 months was regarded as a treatment course,it lasted 2 courses. Clinical efficacy,and E2,FSH,SHBG,uterine volume,menstrual blood volume,uterine fibroid volume and incidence of adverse reactions in 2 groups before and after treatment were observed. RE-SULTS:Total effective rate in observation group was significantly higher than control group,the difference was statistically signifi-cant(P<0.05). After treatment,the FSH,E2,uterine volume,menstrual blood volume and uterine fibroid volume in 2 groups were significantly lower than before,and observation group was lower than control group,the differences were statistically signifi-cant(P<0.05);but there were no significant difference in the SHBG and adverse reactions between 2 groups(P>0.05). CONCLU-SIONS:The clinical efficacy of Guizhi fuling capsule combined with mifepristone in treatment of uterine fibroids is more signifi-cant than mifepristone alone,with good safety.

Objective To investigate the effect of 20‐HETE on the isolated myocardial ischemia reperfusion injury and to ex‐plore its underlying mechanisms .Methods Experiments were performed in isolated rat hearts subjected to 35 min of ischemia fol‐lowed by 40 min of reperfusion in Langendorff preparations .HET0016 (1 μmol/L) and various concentrations (10 ,30 or 50 nmol/L) of 20‐HETE were infused 10 min before the onset of ischemia and throughout the reperfusion period .Cardiac hemodynamic changes and myocardial contractility were continuously recorded with the Powerlab /8P system .Myocardial infarct size was meas‐ured by TTC staining .The level of ROS and the protein carbonyl content were determined by DHE fuorescence and DNPH method , respectively .Results Perfusion with HET0016 significantly improved myocardial ischemia reperfusion injury reduction in cardiac contractility ,after inhibited the production of 20‐HETE significantly reduced the occurrence of myocardial infarction area (P<0 .05) ,but exogenous join 20‐HETE aggravated I/R‐induced myocardial injury (P<0 .05) .Myocardial ischemia reperfusion injury significantly increased production of ROS and oxidative stress ,both of which were significantly inhibited by HET 0016 and enhanced by 20‐HETE administration(P< 0 .05) .Conclusion 20‐HETE stimulates ROS production and enhance protein carbonylation , which aggravates myocardial ischemia reperfusion injury .

Objective To investigate the changes and clinical significance of serum total and high molecular weight adiponectin (HMW APN) levels in type 2 diabetic patients with non-alcoholic fatty liver disease (NAFLD).Methods Serum levels of total adiponectin and HMW APN were measured by ELISA,in 58 type 2 diabetic patients with nonalcoholic fatty liver disease (T2DM with NAFLD group),59 type 2 diabetic patients without nonalcoholic fatty liver disease (T2DM group),and 55 control subjects with normal glucose tolerance and without nonalcoholic fatty liver disease (NC group).Results (1) Alanine transaminase and total cholesterol levels were significantly higher in T2DM with NAFLD group than those in NC group(P＜0.01),while body mass index (BMI),aspartate aminotransferase,triglyceride (TG),and fasting insulin were also significantly increased (P＜0.05 or P＜ 0.01),and high density lipoprotein-cholesterol (HDL-C) were significantly decreased compared with those in NC and T2DM groups (P＜0.01).(2) Total adiponectin,HMW APN,and the ratio of HMW APN to total adiponectin in T2DM group were lower than those in NC group.Total adiponectin and HMW APN levels in T2DM with NAFLD group were significantly lower than those in T2DM group(P＜0.01).(3) Regression analysis showed that homeostasis model assessment insulin resistance index (HOMA-IR),TG,and HDL-C levels were independent predicting factors for total adiponectin and HMW APN levels.TG and BMI were independent risk factors for T2DM complicated with NAFLD,while total adiponectin and HMW APN levels were the protective ones (OR =0.701,0.489,respectively).Conclusions Hypoadiponectinemia may partially play an important role in the development and progression of NAFLD in T2DM.

Objective To evaluate the values of integrated backscatterr (IBS) and dobutamine stress echo- cardiography (DSE) in the diagnosis of coronary artery disease(CAD).Methods Thirty-one suspected CAD patients received DSE and IBS analysis before selective coronary angiography(SCA).Using SCA results as the golden standard of the diagnosis,the diagnostic sensitivity(Se),specificity(Sp),and accuracy rate (Ac) of conventional eye-view and DSE-cyclic variation integrated backscatter (CVIB) were compared. Results The CVIB of myocardial segments perfused by stenotic coronary artery was smaller than that of segments perfused by patent coronary artery during high dose of DSE. For conventional DSE eye-view method, the Se,Sp,and Ac were 80%,72% and 77%, while that of DSE-CVIB were 90%,72% and 83%, respectively. Conclusion IBS is a valuable method in assessing the myocardial wall motion in DSE, and the combination of the two methods can improve the diagnostic accuracy rate of CAD.

Objective To evaluate comprehensively the effect of vibratory sputum ejectionmachine on patients by comparing the volume of vibratory sputum ejection machine and the traditional back percussion sputum expectoration.Methods Searching thoroughly Chinese Journal Full-text Database(CJFD),VIP CJFD,Wanfang Periodical Database,collecting the clinical randomized controlled trials of domestic vibratory sputum ejection machine and traditional back percussion sputum expectoration and employing RevMan5.0 processing software for statistical analysis.Results Vibration expectoration instrument is better than the traditional back percussion sputum expectoration.Conclusions Vibratory sputum ejection machine can increase the amount of expectoration drainage in patients and reduce pulmonary infection.

Objectives To explore the clinical features, diagnosis and treatment of Crohn’s disease complicated by erythromelalgia (EM) in a pediatric case. Methods The clinical manifestation, results of laboratory testing and endoscopy, mutational analysis of the SCN9A gene, and the follow-up record were collected and analyzed based on review of literature to a thirteen-year-old girl with Crohn’s disease complicated by erythromelalgia. Results The patient experienced symptoms of anorexia, fatigue, diarrhea, dark red and swelling skin, increased skin temperature and burning pain in her both lower extremities during the course of disease. The endoscopic ifndings included multiple ulcerations and polypoid protrusion lesion in colon, and the pathological examination showed the local abscess formation in colonic mucosa. The mutation in SCN9A gene of the child was excluded by gene analysis. The symptoms were gradually ameliorated after treatment using prednisone and mesalazine combined with dipyridamole and low-molecular-weight heparin calcium. Conclusions Crohn’s disease complicated by erythromelalgia is rare. The pathogenesis may relate to immune factors, thrombocytosis, and hyper-coagulable states, etc. The combination of glucocorticoids, 5-aminosalicylic acid and anticoagulants may lead to a better therapeutic effect.

ObjectiveTo explore the clinical features and factors inlfuencing the prognosis of childhood non-Hodgkin's lymphoma (NHL).MethodsPathologically diagnosed 78 pediatric patients with NHL and treated in the Afifliated Hospital of Qingdao University from January 2004 to August 2013 were collected and analyzed. Patients were grouped according to age, sex, tumor size, immunologic classiifcation, B-symptoms, LDH, hemoglobin and clinical staging. The 5-years event-free survival rate (EFS) were calculated and analyzed by Kaplan-Meier method, and the difference of the survival rate between groups were com-pared. Using Cox proportional hazards model, we analyzed the possible factors that might inlfuence 5-years event-free survival rate EFS , such as age and clinical staging. TheOR value and the 95%CI were calculated.ResultsAmong the 78 cases, median age of onset is 7 years old, male to female ratio is 2.90:1, there are 25 cases of T-cell type and 53 cases of B-cell type. According to pathological types,Burkitt lymphoma is the most common (34.6%), followed by T-lymphoblastic lymphoma (20.5%), diffuse large B-cell lymphoma (11.5%). According to the St. Jude malignant lymphoma staging system, there are 2 cases in stage I, 9 in stageⅡ, 35 in stageⅢ and 32 in stageⅣ. Swelling of periphery lymph node (80.7%) was observed as initial symptom in 26 cases of lymphoblastic lymphoma. Among 45 cases of mature B-cell tumor, the main clinical feature including abdominal cavity and gingival were observed in 27 cases of Burkitt lymphoma. Among the 73 cases received treatments, 66 cases (90.5%) attained CR (complete remission) and 4 cases (5.5%) attained PR (partial remission) by cytology and radiographic assessment after two course of combined chemotherapy, 2 cases (2.7%) rapidly relapsed after the remisson of one course treatment, 1 case (1.3%) appeared the central nervous system inifltration in the chemotherapy. With median follow-up time of 42 months, the 5-year EFS of the 73 cases was (67.0+5.5)%. Single factor analysis showed that B-symptom, LDH, and clinical staging were signiifcantly correlated with prognosis (P<0.05), while age, sex, tumor size, hemoglobin and immune classiifcation was independent of prog-nosis (P>0.05). Multiple factor analysis showed that LDH and clinical staging inlfuenced the prognosis (OR=3.34,95%CI 2.275?10.683,P<0.01;OR=4.354,95%CI 1.519?12.475,P<0.01) .Conclusionclinical features of childhood NHL are variable. LDH and clinical staging at primary diagnosis are important factors affecting the prognosis.