1.5 mm were included for the analysis. The results were compared with catheter coronary artery angiography. Results In all patients, 16-slice CT were performed without complications. 1?267 segments were considered as stenosis by 16-slice CT. With the results of conventional coronary angiography as the golden standard, the sensitivity of 16-slice CT was 75.43% and its specificity was 95.88%. Its positive predicted value was 74.58% while its negative predicted value was 96.01% and its accuracy was 93.05% for stenosis of greater than 50%. Conclusion 16-slice CT provides a good visualization of the coronary tree in most patients, allowing accurate non-invasive detection of significant coronary stenosis.

Objective To evaluate the ability of 64-slice spiral CT(64-MSCT) in demonstrating the coronary collateral circulation(CCC).Methods Patients undergoing 64- MSCT coronary angiography with relatively good image quality from August 2005 to April 2007 were entered into the study according to following requirements: patients underwent a traditional coronary artery angiography (CAG) after the coronary CT imaging; the CAG showed there was stenosis greater than 90% in at least one major coronary artery.The CCCs were assessed in CAG by the Rentrop grading, and the CAG served as the gold standard to determine the accuracy of 64-MSCT angiography in detecting collateral circulations.All CCCs were grouped angiographieally into three groups of CC0, CC1 ,and CC2 by Werner collateral collection(CC) grading.In the 64-MSCT coronary angiography imaging, a new grading(MSCT-CC) was used to evaluate CCCs.The consistency between these two grading standards was analyzed by Kappa test.Resalts A total of 97 patients were entered into the study, among whom at least one CCC was found by CAG in 37 patients and at least one CCC was detected by 64-MSCT angiography.Taken the CAG results as the reference standard, the sensitivity and specificity of the 64-MSCT angiography in detecting patients with the CCCs were 89.2% (33/37) and 93.8% (60/64) respectively.The sensitivity of the 64-MSCT angiography detecting the CCCs was 75.8% (47/62). All the CCCs detected by CAG and 64-MSCT angiography were grouped into three groups according to Werner grading: 4 in CC0 group, 24 in CC1 group and 19 in CC2 group.The CCCs were grouped into three groups according to MSCT-CC: 7 in MSCT-CC0 group, 22 in MSCT-CC1 group and 18 in MSCT-CC3 group.The consistency of the two grading criteria was relatively high (Kappa = 0.857, P < 0.01).Conclusion 64-MSCT angiography can accurately evaluate the coronary collateral circulation.

Objective To investigate the clinical features and gene mutation of a newborn with neonatal-onset ornithine transcarbamylase deficiency (OTCD) and report the multidisciplinary perinatal management of the mother with late-onset OTCD.Methods The clinical features,biochemical data and the treatment of a newborn boy with OTCD and his mother admitted by Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in April,2013,were collected.The ornithine transcarbamylase (OTC) gene in the family was analyzed.Results Serum ammonium in the male newborn gradually increased to 1 020 μ mol/L at 48 h after birth.His blood amino acids level and urine organic acid level showed a pattern indicative of OTCD [blood arginine (97.43 μ mol/L,reference 1.00-25.00 μ mol/L),citrulline (27.43 μ mol/L,reference 4.00-30.00 μ mol/L),ornithine (161.66 μ mol/L,reference 10.00-120.00 μ mol/L) and methionine (70.45 μ mol/L,reference 10.00-50.00 μ mol/L); urine uracil (67.11 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (1 372.66 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol Crea)].DNA studies revealed a c.583G ＞ A (G195R) homozygous mutation of the OTC gene.His mother was heterozygous for OTCD and developed acute hyperammonemia during pregnancy.Her blood showed a normal-leveled arginine (8.44 μ mol/L,reference 1.50-25.00 μ mol/L),a normal-leveled citrulline(8.41 μ mol/L,reference 7.00-35.00 μ mol/L),an elevated glutamate(279.15 μ mol/L,reference 45.00-200.00 μ mol/L).Her urine uracil (51.55 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (38.75 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol) were elevated.Successful management of her prenatal and postpartum blood ammonia level was achieved after administration of pharmacologic nitrogen scavengers and protein limitation.DNA studies revealed a c.583G ＞ A (G195R) heterozygous mutation in the newborn's mother and grandmother.Conclusions General management on pregnant OTCD women is effective.Male newborn patients often have a poor prognosis.

Objective:To evaluate the diagnostic accuracy of 64-channel multislice spiral computed tomography(MSCT) in subjects with presentations suggestive of stable angina or acute coronary syndrome. Methods: Subjects received both 64-channel MSCT and coronary angiography, from Feb. 2006 to Feb. 2007, were enrolled for retrospective analyses. Results of the quantitative coronary angiography were used as the "Golden criteria", accuracy of 64-channel MSCT were evaluated in the overall sample, as well as in subjects suspected of stable angina and acute coronary syndrome. Results: A total of 120 subjects were enrolled in the analyses. On the patient level, the sensitivity, specificity, and accuracy of 64-channel MSCT in detecting significant stenoses were 92.5%, 50%, and 87.5%, respectively. The overall ROC area under curve was 0.71. On the artery level, sensitivity, specificity, positive predictive value, negative predictive value, and ROC area under curve of 64-channel MSCT were 69.9%, 83.8%, 81.1%, 73.7%, and 0.77, respectively. Further analyses showed the sensitivity, specificity, positive predictive value, negative predictive value, and ROC area under curve of 64-channel MSCT in subjects presenting as stable angina and in subjects presenting as acute coronary syndrome were as follows: 70.2% vs 69.2%, 76.2% vs 86.0%, 74.7% vs 85.6%, 71.9% vs 69.9%, and 0.73 vs 0.78. Conclusion: The accuracy rates of 64-chanel MSCT in subjects presenting as stable angina and in subjects presenting as acute coronary syndrome were similar.

Objective To evaluate the accuracy of 16-detector row computed tomography coronary angiography in detection of hemodynamically relevant stenosis(≥50%) of the coronary artery. Methods Twenty-six patients undergoing both multi-detector row CT and conventional coronary angiography were included in this retrospective study. CT scan were obtained with collimation of 16 and rotation time of 500 ms. Retrospective electrocardiographic(ECG) gating was used for image reconstrution. The stenosis degree was detected with axial scanning and three-dimensional reformation. Results With the results of conventional coronary angiography as golden standard, the sensitivity, specificity, accuracy, positive predicted value and negative predicted value of the CT angiography in detection of hemodynamically relevant stenosis(≥50%) were 90.0%, 95.5%, 94.7%, 77.6%, and 98.2% respectively. Conclusion Sixteen-detector row computed tomography coronary angiography has high clinical value with evaluating hemodynamically relevant stenosis(≥50%) of coronary artery,and could be a significant guide for diagnosis and therapy of coronary heart disease.

ObjectiveTo evaluate CT and MRI findings of the intrathoracic ganglioneuroma and to improve its diagnosis and differential diagnosis ability.MethodsClinical,CT( n = 14),MRI (n = 6) and pathology manifestations of 20 patients with the intrathoracic ganglioneuroma were retrospectively analyzed.All 20 cases had chest CT and MRI plain scanning and multiphase enhance scanning before operation.ResultsSeventeen of 20 lesions were located in posterior mediastinum,2 in pleura side and 1 in right thorax cavity.The CT value of the plain scans ranged from 20 to 40 HU ( mean 30.5 HU),Tubercle calcification were detected in four masses,one case with fat density was showed on CT scanning.After injecting contrast media,CT value ranged from 0 to 12 HU (mean 6.2 HU) in artery phase,ranging from 10 to 20 HU ( mean 14.3 HU) in delay phase.Five of 6 cases of MRI signals were homogeneously low intensity on T1 WI,1 case with fat signal was imhomogeneously low intensity on T1WI.Six cases were imhomogeneously high intensity on T2WI.A whorled appearance was visualized in one tumor on T2WI.The post-contrast enhancement MR images was slight enhancement imhomogeneously in artery phase and gradual increasing enhancement in delay phase.ConclusionOn CT and MR imaging,no enhancement or slight enhancement in artery phase and gradual increasing enhancement in delay phase are characteristic manifestations of ganglioneuroma in the thorax.

ObjectiveTo explore the clinical diagnosis and surgical treatment of primary retroperitonealneurilemoma(schwannoma). MethodsClinicaldataof 47patientsof primary retroperitoneal schwannoma admitted and surgically treated from January 1995 to December 2009 were retrospectivelly reviewed.ResultsAs diagnosed by pathology there were 36 cases of Benign schwannoma,with a median age at onset of 41years, among those 11 patients were symptomatic, and 25 were asymptomatic. There were 11 malignant 11 cases, the median age was 38 years, among those 6 patients were symptomatic, and 5 were asymptomatic. The positive diagnostic rate of preoperative CT and MRI were 36. 2％ ( 17/47 ) and 58. 3％ ( 7/12 ) respectively. Immunohistochemically positive rates of S-100 were 100％ and 81.8％(9/11) in benign and malignant group respectively.All cases underwent surgical treatment. Surgical resection rates for benign and malignant groups were 100％ and 90. 9％(10/11)respectively. There was no perioperative death, Overall 5-year survival rates were 100％ and 45.5％ for benign and malignant tumors groups respectively. In benign group 2 cases recurred, in malignant group 4 cases recurred, and 3 had distant metastasis.ConclusionsPrimary retroperitoneal schwannomas are less common. It is difficult to make an accurate preoperative diagnosis. Surgery is the most effective therapy.Prognosis is good for benign and poor for malignant retroperitoneal neurilemomas.

Objective Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficiency of the activity of branched-chain 2-keto acid dehydrogenase complex.The complex contains E1α,E1β and E2 subunits which are encoded by BCKDHA,BCKDHB or DBT genes respectively.Mutation in any gene will cause MSUD.The aim of this study was to analyze the gene mutations of four cases with MSUD and carry out prenatal diagnosis for these four families for MSUD.Methods From 2005 to 2010,four neonates (two males and two females) were diagnosed as MSUD at 2,5,10and 26 days of life.The coding regions of BCKDHA gene and BCKDHB gene in the above four cases were amplified by polymerase chain reaction and analyzed by direct DNA sequencing.During the second pregnancy of the same mother,the amniotic fluid was drawn out at 16-20 weeks for gene mutation analysis after the amniocytes were cultured.Results Mutation analysis revealed six mutations in four patients,including four novel mutations (c.308T＞C,c.562G＞T,c.1279C＞G and c.1280-1291de112) and two previously reported mutations.Five mutations (c.308T＞C,c.562G ＞T,c.868G＞A,c.1279C＞G and c.1280-1291de112) were detected on BCKDHA gene in three patients.While one mutation (c.853C＞T) was found on BCKDHB gene in one patient.Only one mutation was found in the amniocytes of each patient's mother at their second pregnancies suggesting a MSUD heterozygous fetus.Conclusions Analysis of BCKDHA and BCKDHB allowed preliminary understand of gene mutations in the four MSUD families,and made prenatal diagnosis possible,which helped in consultation in the second pregnancy.

Lung adenosquamous carcinoma (ASC) is a rare histological subtype of lung cancer, which has a worse prognosis than simple lung adenocarcinoma and lung squamous cell carcinoma. ASC was predominantly located in the peripheral field of the lung with heterogeneous attenuation and the most common features included lobulation, spiculation, pleural tail sign, necrosis and cavitation on chest CT images. However, the imaging features of ASC are not specific. Therefore, acquring accurate pathological diagnosis and adequate treatment as soon as possible are very important.

Pulmonary mucinous adenocarcinoma (PMA) is relatively rare. On chest CT, it can be divided into two types: mass type and pneumonia type. Mass type PMA is more common and is difficult to distinguish from other nonsmall cell lung cancer. It is a solid or partial solid nodule or mass, predominantly located in the peripheral field of the lung with lobulation, spiculation, and more prone “vacuole sign”. Pneumonia type PMA has a poor prognosis and is more likely to develop into diffuse, multifocal and multilobular lesions similar to inflammatory manifestations, indicating dissemination along the airway. Typical signs include large areas of low density, low enhancement consolidation, and “dead tree sign”.