Objective To investigate the relationship of gene polymorphisms of angiotensin eonvertion enzyme (ACE), aldosterone synthase (CYP11B2)and α-adducin with subclinical renal lesion. Methods I/D polymorphism of ACE gene, -344T/C polymorphism of CYP11B2 gene and 460G/T polymorphism of α-adduein gene were detected by polymerase chain reaction (PCR) and restrictive fragment length polymorphism(RFLP) in 604 normotensive subjects and 1081 primary hypertensive patients whose creatinine (Cr) were less than 2mg/L. The primary hypertensive and normotensive subjects were divided respectively into normal group (Ccr≥60ml/min) and subclinical renal lesion (Ccr＜60 ml/min) group, according to creatinine clearance rate (Ccr) calculated by Cockcroft-Gault equation. Results ANOVA, contingency X2 and partition of chi-square were selected. The frequencies of different genotypes of ACE, CYP11B2, and α-adducin were in agreement with Hardy-Weinberg equilibrium in our study. Normal renal function group (A group, n=512) and subclinical renal lesion group (B group, n=92) in normotensive subjects, and normal renal function group (C group, n=828) and subclinical renal lesion group (D group, n=252) in hypertensive patients were compared. The patients in B and D groups were older than those in A and C groups (P<0.01). But there were no significant differences in the age between B and D groups, and between A and C groups. The frequency of ACE-DD genotype in D group was the highest (22.6%) among four groups and the frequency of α-adducin-TT genotype in A group was the lowest (13.3%) among four groups (all P<0.01). The differences of genotype frequencies of ACE and α-adducin genes among other three groups were not significant. No significant difference was found in frequencies of genotypes of CYP11B2 among four groups. Conclusions Subclinical renal lesion is increased with the aging. ACE-DD genotype is related with hypertension and subclinical renal lesion, while α-adducin-TT genotype is related with hypertension and subclinical renal lesion. Association between the genotypes of CYP11B2 and subclinical renal lesion is not found.

Objective To evaluate the safety and efficacy of bipolar plasmakinetic system in exfoliative tran-surethral resection of bladder tumors .Methods Clinical data of 72 patients with non muscle invasive bladder cancer (NMIBC) were retrospectively analyzed.Transurethral bipolar plasmakinetic system was used ,30°viewer,F27 outer sheath was pushed off and bladder tumor was cut .When the bladder filling state ,pushed off bladder mucosa distance from tumor basal 2cm,then electricity cut the exfoliative bladder tumor .When bladder half filling state electricity cut the base of the bladder muscle layer of bladder tumor .Results This group of 72 cases were successfully completed surgery,surgery time 37~93 min,without intraoperative bladder perforation ,slight obturator nerve reflex in 5 cases. The keeping intact pathologic specimens was good for pathological staging .Conclusion Exfoliative transurethral resection of bladder tumors with bipolar plasma is a safe , practical and effective way of operation , which can avoid severe obturator reflex occurred in the operation , and greatly reduce the occurrence of bladder perforation , without TURS,surgical removal of the pathological specimens is specification .

Objective: To estimate the levels of free carnitine and acylcarnitine in neonates, and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou. Methods: Between November 2015 and December 2017, 216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou.They were divided into different groups according to gestational age, birth body weight, blood collecting time and season, in which the group with gestational age <37 weeks was selected as the premature delivery group, and the group with gestational age 37-41^{+ 6} weeks as the normal gestational age group for gestational age analysis, while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis.SPSS 16.0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry.DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic genotypes in children with positive screening, and these confirmed individuals were followed up. Results: There was no statistical difference in the levels of C3, C8 and C102 between preterm infants and normal body mass infants in the gestational age group(all P>0.05), but other carnitine levels had statistically significant differences(all P<0.05). The difference of C102 level between the different birth weight groups was not statistically significant(P>0.05), but that of other carnitine levels were statistically significant(all P<0.05). There was no significant difference in the level of C182 between different blood collection time(P>0.05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0.05). Primary carnitine deficiency was diagnosed in 10 cases, including 7 cases of maternal carnitine absorption deficiency.The incidence in Xuzhou was approximately 121 690.The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou, in which pathogenic mutation type c. 1400C >G was the most common one. Conclusions Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age, birth body weight, blood collecting time and season.Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate, the clinical attention should be paid to screening for maternal carnitine absorption deficiency.

OBJECTIVETo investigate the clinicopathological features and prognosis of patients with gastrointestinal stromal tumor(GIST) after surgery in Shandong Province.

METHODSClinicopathological data of GIST patients undergoing surgery from January 2001 to June 2013 in four university teaching hospitals in Shandong Province were reviewed. Pathology results were rechecked. Patients were followed up. The prognostic factors were evaluated by univariate and multivariate analyses with Log-rank test and Cox proportional hazard model.

RESULTSA total of 1039 GIST cases were enrolled, including 509 males and 530 females, with age from 18 to 87 years(median, 58). Ninety-three patients died of GIST during follow-up. The 1-, 3-, 5-year survival rates were 94.6%, 91.7% and 87.8%, respectively. Patients undergoing R0 resection had a higher 5-year overall survival rate than those undergoing R1 resection(88.8% vs 69.0%, P<0.05). For patients with intermediate risk of recurrence after surgery, the 5-year overall survival rate was 94.4% and 89.2% respectively in imatinib and non-imatinib intervention groups(P>0.05). For patients with high risk of recurrence after surgery, the 5-year overall survival rate was 76.8% and 67.7% respectively(P<0.05). Multivariate analysis revealed that tumor size(P<0.01, RR=1.988, 95%CI:1.497-2.641), mitotic count(P<0.01, RR=2.326, 95%CI:1.686-3.208) and tumor rupture(P<0.01, RR=3.032, 95%CI:1.732-5.308) were independent prognostic factors.

CONCLUSIONSTumor size, mitotic count and tumor rupture affect the prognosis of patients after resection of primary GIST independently. The standard treatment of localized GIST is R0 resection. Adjuvant imatinib therapy can improve overall survival of patients with high risk of recurrence after surgery. The efficacy of imatinib for patients with intermediate risk of recurrence remains to be verified.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Benzamides ; Cohort Studies ; Combined Modality Therapy ; Female ; Follow-Up Studies ; Gastrointestinal Neoplasms ; diagnosis ; therapy ; Gastrointestinal Stromal Tumors ; diagnosis ; therapy ; Humans ; Imatinib Mesylate ; Male ; Middle Aged ; Multivariate Analysis ; Neoplasm Recurrence, Local ; Piperazines ; Prognosis ; Proportional Hazards Models ; Pyrimidines ; Retrospective Studies ; Survival Rate ; Young Adult

OBJECTIVETo report a case of I73T mutation in the pulmonary surfactant protein (SP)-C gene associated with pediatric interstitial lung disease, and study the clinical diagnosis and review related literature, to investigate the role of gene detection in the diagnosis of interstitial lung disease in infants and children.

METHODThe clinical, radiological, and genetic testing information of the case was analyzed and related literature was reviewed.

RESULT(1) An 8-month-old girl was hospitalized because of cough, tachypnea, continuous oxygen therapy and failure to thrive. Physical examination on admission revealed tachypnea, slight cyanosis and the three concave sign was positive, respiratory rate of 50 times/minute, scattered fine crackles could be heard over both lungs, clubbing fingers were found. No other abnormalities were noted. Laboratory test results: pathogenic examination was negative, multiple blood gas analysis suggested hypoxemia. Chest CT showed ground-glass like opacity, diffused tubercle infiltration. The I73T mutation in SP-C gene was identified by SP-related gene sequencing. (2) The review of related literature: Data of 3 infants with I73T mutation in SP-C gene showed that all the 3 cases had tachypnea and dyspnea, chest CT revealed diffuse infiltration or diffuse ground glass pattern in lungs, the major pathology of lungs was nonspecific interstitial pneumonia (NSIP).

CONCLUSIONA case of interstitial lung disease with I73T mutation in SP-C gene was preliminarily diagnosed in an infant. Gene test provides an important tool in the diagnosis of such pediatric interstitial lung disease.

Dyspnea ; Female ; Humans ; Idiopathic Interstitial Pneumonias ; Infant ; Lung Diseases, Interstitial ; diagnosis ; genetics ; Mutation ; Pulmonary Surfactant-Associated Protein C ; genetics ; Pulmonary Surfactants ; Tomography, X-Ray Computed

Objective To investigate the clinicopathological features and prognosis of patients with gastrointestinal stromal tumor (GIST) after surgery in Shandong Province. Methods Clinicopathological data of GIST patients undergoing surgery from January 2001 to June 2013 in four university teaching hospitals in Shandong Province were reviewed. Pathology results were rechecked. Patients were followed up. The prognostic factors were evaluated by univariate and multivariate analys es with Log-rank test and Cox proportional hazard model. Results A total of 1039 GIST cases were enrolled, including 509 males and 530 females, with age from 18 to 87 years (median, 58). Ninety-three patients died of GIST during follow-up. The 1-, 3-, 5-year survival rates were 94.6%, 91.7% and 87.8%, respectively. Patients undergoing R0 resection had a higher 5-year overall survival rate than those undergoing R1 resection (88.8% vs 69.0%, P<0.05). For patients with intermediate risk of recurrence after surgery, the 5-year overall survival rate was 94.4% and 89.2% respectively in imatinib and non-imatinib intervention groups (P>0.05). For patients with high risk of recurrence after surgery, the 5-year overall survival rate was 76.8% and 67.7% respectively (P<0.05). Multivariate analysis revealed that tumor size (P<0.01, RR=1.988, 95%CI:1.497-2.641), mitotic count (P<0.01,RR=2.326, 95%CI:1.686-3.208) and tumor rupture (P<0.01, RR=3.032, 95%CI:1.732-5.308) were independent prognostic factors. Conclusions Tumor size, mitotic count and tumor rupture affect the prognosis of patients after resection of primary GIST independently. The standard treatment of localized GIST is R0 resection. Adjuvant imatinib therapy can improve overall survival of patients with high risk of recurrence after surgery. The efficacy of imatinib for patients with intermediate risk of recurrence remains to be verified.

Objective To investigate the clinicopathological features and prognosis of patients with gastrointestinal stromal tumor (GIST) after surgery in Shandong Province. Methods Clinicopathological data of GIST patients undergoing surgery from January 2001 to June 2013 in four university teaching hospitals in Shandong Province were reviewed. Pathology results were rechecked. Patients were followed up. The prognostic factors were evaluated by univariate and multivariate analys es with Log-rank test and Cox proportional hazard model. Results A total of 1039 GIST cases were enrolled, including 509 males and 530 females, with age from 18 to 87 years (median, 58). Ninety-three patients died of GIST during follow-up. The 1-, 3-, 5-year survival rates were 94.6%, 91.7% and 87.8%, respectively. Patients undergoing R0 resection had a higher 5-year overall survival rate than those undergoing R1 resection (88.8% vs 69.0%, P<0.05). For patients with intermediate risk of recurrence after surgery, the 5-year overall survival rate was 94.4% and 89.2% respectively in imatinib and non-imatinib intervention groups (P>0.05). For patients with high risk of recurrence after surgery, the 5-year overall survival rate was 76.8% and 67.7% respectively (P<0.05). Multivariate analysis revealed that tumor size (P<0.01, RR=1.988, 95%CI:1.497-2.641), mitotic count (P<0.01,RR=2.326, 95%CI:1.686-3.208) and tumor rupture (P<0.01, RR=3.032, 95%CI:1.732-5.308) were independent prognostic factors. Conclusions Tumor size, mitotic count and tumor rupture affect the prognosis of patients after resection of primary GIST independently. The standard treatment of localized GIST is R0 resection. Adjuvant imatinib therapy can improve overall survival of patients with high risk of recurrence after surgery. The efficacy of imatinib for patients with intermediate risk of recurrence remains to be verified.

Objective:To evaluate the safety and efficacy of enhanced recovery after surgery(ERAS) in the perioperative period of congenital choledochal cysts in children.Methods:This is a multicenter prospective randomized controlled study. The clinical data of 273 pediatric congenital choledochal cysts(CCC) patients who underwent surgery at 14 medical centers with complete follow-up data were collected through the medical data analysis platform. Among them, 123 cases in ERAS group were managed perioperatively in strict accordance with ERAS mode, and 150 cases in conventional group were managed according to traditional mode. The length of hospital stay,time to first farting, time to complete feeding, the incidence of complications, cost and readmission rate within 30 days,stress indexes and liver function were compared between the two groups.Results:Compared with the conventional group, median time to start farting (2.0 d vs. 3.0 d, P<0.001), median time to complete feeding (5.0 d vs. 7.0 d, P<0.001), median postoperative hospitalization time (6.0 d vs. 9.0 d, P<0.001),the median total length of stay(13.0 d vs. 15.0 d, P<0.001) were shorter,the median hospitalization cost (37,000 yuan vs.43,000 yuan P<0.001) was lower, and stress indexes recovered quickly. The incidence of postoperative hospital stay and readimission rate within 30 d were not statistically different between the two groups. Conclusion:It is safe and feasible to implement ERAS for children with CCC in the perioperative period, which can reduce stress response, speed up recovery,and save medical costs.