Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.

Objective To evaluate the value of cardiac MRI in the diagnosis of Ebstein anomaly (EA). Methods Twenty patients from February 2014 to April 2017 with EA confirmed by surgery were enrolled into this study. The analysis in all patients was made according to preoperative cardiac MRI, 2D TTE and surgical data, including the changes of tricuspid valve leaflets, Carpentier classification, the size and function of atrioventricle, late Gadolinium enhancement, the total right/left-volume index and cardiopulmonary bypass time,etc.The numbers of apicaldisplaced leaflets and development condition of all the leaflets were compared using the R×C χ2among the three groups.With surgical results as the reference standard, the diagnostic accuracy of the two groups for the development condition of all the leaflets were evaluated. One-way ANOVA was performed to compare the differences of the apicaldisplaced distance of septal leaflet, using these three methods. Comparisons of the total right/left-volume index, surgery-related data between patients with or without late gadolinium enhancement were performed by independent t test.Results (1) The results in anatomicalstructures, such as distance of apicaldisplacedseptal leaflet,displacement of each leaflet and the Carpentier classification, showed nostatistical difference among MRI,2D TTE and operational findings. The leaflet dysplasia defined by MRI and 2D TTE areequivalent to surgically defined severe dysplasia, and surgically defined mild to moderate dysplasia can't be identified by the former two methods. The overall diagnostic accuracy of MRI and 2D TTE to identify leaflet dysplasia were 41.3%(19/46) and 34.7%(16/46), respectively.(2) Functional right ventricular volume index decreased in 1 case, normal in 8 cases, increased in 11 cases;functional right ventricula rejection fraction decreased in 15 cases. Six patients' left ventricular volume index decreased, 13 remained in normal range, 1 showed increased;left ventricula rejection fraction decreased in 14 cases. (3)LGE was identified in 8 patients and non-LGE in 12. Difference of the total right/left-volume index [(7.12 ± 4.06) vs. (3.84 ± 2.10), P=0.029] between two groups was statistically significant. However, there was no statistical difference in extracorporeal circulation time, aorticcross-clamping time, intubation time, ICU residence time and postoperative hospital staybetween the LGE and non-LGE groups.Conclusions Cardiac MRI can relatively accurately evaluate the apicaldisplacement of leaflets and the morphological changes of the atria and ventricles, as well as quantitatively evaluate the ventricular function, which can rovide references for clinical diagnosis and severity evaluation of EA.

Objective To evaluate the value of iterative modal reconstruction (IMR) for reducing radiation dose and controlling image quality in cardiac CT. Methods Ten pigs were included. All pigs were scanned on a 256?slice prospectively ECG?gated cardiac CT utilizing routine dose (group A) and tube current reduced by 30%(group B), 50%(group C) and 70%(group D), respectively. Filtered back projection (FBP), hybrid iterative reconstruction (iDose4) and IMR were used for all data, respectively. Image noise and contrast?to?noise ratio (CNR) of ascending aortic root were measured, while overall image quality and coronary artery image quality was rated (five point scale). All results reconstructed by FBP, iDose 4 and IMR were compared. Objective measurements were compared with one?way analysis of variance, and subjective assessments were compared with Kruskal?Wallis H test andχ2 test. Results Compared with that of FBP and iDose4, image noise of IMR was(15.1 ± 6.1),(18.8 ± 5.5),(22.1 ± 4.8)and(33.0 ± 4.0)HU, respectively in group A, B, C and D with significant reduction (F=82.77, 90.71, 96.59, 95.51 respectively, all P<0.01). Using IMR, groups A, B, C, D had higher CNR (42.0±11.1, 37.2±10.4, 31.4±8.7, 23.7±7.0;F=50.65, 53.55, 76.60, 57.36, all P<0.01) and overall image quality (5.0 ± 0.0, 4.8 ± 0.4, 4.6 ± 0.5, 4.5 ± 0.5;H=20.96, 15.63, 18.66, 23.56, all P<0.01) than FBP and iDose4. Using IMR, group A (100%, 40/40) and group B (100%, 40/40) had no significant difference (P>0.05) in the diagnosis rates of proximal coronary arteries compared with that using FBP and iDose4, while group C (100%, 40/40) and group D(92%, 37/40) had significantly increased diagnosis rates (χ2=20.05, 45.72, both P<0.01). The diagnosis rates of distal coronary arteries of IMR reconstruction which were 100%(50/50), 98%(49/50), 90%(45/50), 78%(39/50), respectively in groups A, B, C, D had significant increase compared with that of FBP and iDose4 reconstruction (χ2=7.39, 16.75, 34.62, 81.33, all P<0.05). Conclusions IMR can significantly reduce image noise, improve CNR and image quality compared with iDose4. Application of IMR can reduce radiation dose but without compromising image quality.

Objective To establish a function model to modulate the tube current according to the chest circumference at Coronary CTA scan,and to evaluate the feasibility of using the function model individually.Methods Sixty-eight consecutive patients who underwent thoracic scan with automatic current modulation were studied to establish a function model of tube current and chest circumference.The other 64 consecutive patients underwent coronary CTA scan using the new function model.The image quality was scored,and the noise,tube current and radiation dose were recorded and statistically evaluated.Results The POW function model was the best one to adjust tuber current to the chest circumference (R2 =0.691,P ＜ 0.05).The mean image quality score,noise,tube current,radiation dose (CTDIvol) and dose-length product (DLP) were (3.38±0.72) scores,(31.02 ±3.97) HU,(390.63± 89.30) mA,(34.83±10.72) mGy,(751.67 ±175.16) mGy·cm,respectively.Conclusions Tube current modulation based on the chest circumference would be feasible to reduce the radiation dose individually in coronary CT angiography.

BACKGROUND:Extraction methods of human amniotic mesenchymal stem cells are inconsistent in the number of cells.
OBJECTIVE:To explore the optimal method to in vitro isolate and culture human amniotic mesenchymal stem cells.
METHODS:Under sterile conditions, ful-term cesarean fetal amniotic membrane was cut into pieces, then to isolate human amniotic mesenchymal stem cells by seven methods in four experiments. In experiment 1, human amniotic mesenchymal stem cells were isolated by the fol owing three methods:(1) 0.05 g/L trypsin digestion for 10 minutes fol owed by 0.75 g/L col agenase digestion for 60 minutes;(2) 0.75 g/L col agenase I for 120 minutes;(3) co-digestion with 0.05 g/L trypsin and 0.75 g/L col agenase for 60 minutes. In experiment 2, the samples were digested with 0.05 g/L trypsin digestion for 30 minutes fol owed by 0.75 g/L col agenase digestion for 30 minutes. In experiment 3, the samples were digested by two methods:(1) 0.05 g/L trypsin digestion for 30 minutes×2, fol owed by 0.75 g/L col agenase digestion for 60 minutes;(2) 0.05 g/L trypsin digestion for 40 minutes×2, fol owed by 0.75 g/L col agenase digestion for 60 minutes. In experiment 4, the samples were digested with 0.05 g/L trypsin digestion for 30 minutes×2, fol owed by 1 g/L col agenase digestion for 60 minutes. Fol owing morphology observation under a microscope, we studied the most suitable method for isolating human amniotic mesenchymal stem cells.
RESULTS AND CONCLUSION:Digestion with 0.05 g/L trypsin for 30 minutes twice fol owed by 1 g/L of col agenase digestion of 60 minutes was the most suitable isolation and culture condition in vitro. cells became elongated fusiform or star-shaped with rich cytoplasm, and nuclei were round with 1-3 nuts. We can harvest the most number of human amniotic mesenchymal stem cells using the method described in experiment 4.

Objective To evaluate the value of MRI in the diagnosis of complex congenital heart disease.Methods Twenty-one patients with complex congenital heart disease,who had undergone MRI examination were enrolled in this research.The MRI data of every patient was analyzed and abnormalities of anatomy was counted by two experienced cardiovascular radiologist.Surgical diagnosis (17 cases) or consistent diagnosis (4 cases) of ultrasonic,cardiac catheter and cardiac CT was regarded as reference standards.Accuracy and misdiagnosis rate were obtained.Results Twenty-one patients had 63 main abnormalities,61 malformations was found by MRI examination,the diagnostic accuracy was 96.8％,and the misdiagnosis rate was 4.8％ (1 atrial septal defect (ASD) and 1 major aorta pulmonary collateral arteries (MAPCAS) were missed,1 arterialduct stump was misdiagnosed as patent ductus arteriosus (PDA).Conclusion MRI has excellent diagnosticaccuracy on complex congenital heart disease,it is another good noninvasive cardiac examination method beside ultrasonic.

Objective To investigate the difference of morphology and blood flow of cavopulmonary anastomosis by MRI and that by ultrasonic cardiography (UCG) in patients with bidirectional Glenn shunt (BGS).Methods Phase-contrast MRI (PC-MRI) and contrast enhanced MRI (CE-MRI) were performed for superior vena cava ( SVC ) and inferior vena cava (IVC) in 22 patients with BGS on 3.0 T MR scanner.PC-MRI was used for measuring blood flow and CE-MRI for illustrating morphology.The width,peak flow velocity and gradient pressure of cavopulmonary anastomosis were calculated by using Report Card software.The similar data of UCG was collected.The parameters by MRI and that by UCG were compared statistically by t test and Pearson correlation.Results Based on the MRI data,the blood flow of SVC [ ( 1.002 ±0.208) L/min ] was significantly lower than that of IVC [ ( 1.794 ± 0.392 ) L/min ] ( t =- 15.148,P ＜0.01 ),while the regurgitation fraction of SVC [ (26.54 ± 12.82)％ ] was significantly higher than that ofIVC [ ( 17.44 ± 10.17)％ ] (t =11.060,P ＜0.01 ).The morphology displayed with MRI angiography couldnot be detected with UCG.The width of cavopulmonary anastomosis measured by MRI [ (12.46 ±3.43 ) mm ] was significantly higher than that of UCG[ ( 11.04 ± 2.63 ) mm] ( t =4.048,P ＜ 0.01 ),while the peak flow velocity of cavopulmonary anastomosis measured by MRI [ (47.77 ± 10.44) cm/s] was significantly lower than that of UCG [ (52.19 + 9.63) cm/s] ( t =- 2.237,P ＜ 0.05 ).No significant difference was found in gradient pressure of cavopulmonary anastomosis between the values by MRI [(0.95+0.42) mm Hg(1 mm Hg =0.133 kPa)] and that by UCG [(1.12+0.38)mm Hg] (t=2.010,P ＞ 0.05).The width,peak flow velocity and gradient pressure of cavopulmonary anastomosis by MRI were closely correlated with those by UCG (r =0.858,0.489,0.427,all P＜ 0.05 ).Conclusions A good correlation is found in the width,peak flow velocity,and gradient pressure of the cavopulmonary anastomosis obtained by 3.0 T MRI and UCG.MRI is more useful tool to display the width and abnormal morphology of cavopulmonary anastomosis than UCG.

Objective To observe the imaging features of primary lymphoma of bone (PLB) on MRI and PET, and to assess the value of MRI combined with PET for PLB. Methods Sixteen patients with pathologically confirmed PLB were collected, and the MRI and PET appearances were analyzed retrospectively. Results Single bone infiltration was detected in 15 patients (5 in femurs, 3 in vertebro, 3 in right iliums, 2 in tibias, 1 in radius and 1 in maxillae), while multiple bones infiltration were noticed in 1 patient (lesion located in manubrium sterni and the 7th right rib). MRI demonstrated heterogeneous focal-lamellar or diffuse signal intensity within marrow, isointense or hypointense on T1WI and slightly hyperintense on T2WI with homogeneous or heterogeneous enhancement. Severe soft tissue mass was seen in all 16 patients, the range of soft tissue mass was larger than osseous lesion in 15 patients and equal to osseous lesion in 1. Most PLB were homogeneous isointense or slightly hypointense on T1WI and homogeneous or heterogeneous slight-hyperintense on T2WI with slightly or moderately homogeneous or heterogeneous enhancement, while in 3 patients showed single vertebral compression fracture with local epidural- and/or paravertebral-soft tissue, and the range of soft tissue larger than the pathologic vertebrae. PET was performed before operation in 13 patients, showing local increasement of glycometabolism and uptake of radioactive nuclide without abnormality for other sites. For three patients of primary lymphoma of vertebrae underwent PET after operation, and recurrence was detected in 1 patient after 2 months. Conclusion Large soft mass with small osseous destruction and relatively hypointensity on T2WI is somehow characteristic for PLB. PET features of PLB are not specific, but has some advantages in determining the nature of lesion, differentiating lesions and follow-up after operation. MRI combined with PET is an appropriate imaging method for PLB.

Objective To explore the diagnostic value of post processing techniques of MSCT for diagnosing congenital heart disease associated with tracheobronchial stenosis in children. Methods Thirty four patients with congenital heart disease complicated by tracheobronchial stenosis were evaluated with MSCT. MPR, CPR, MinIP and VR were performed to show the tracheobronchial morphology. Findings in 43 segments of 32 cases were compared with the findings of surgical operation. Mann-Whitney test was employed to assess the significance of measurement between the post processing techniques and the operation. Results The lenghth of stenotic segments were variable seen at operation, with values between 4-39 mm in trachea, 4-33 mm in main bronchi and 3-12 mm in lobe bronchi, respectively. The biggest difference between the measurement of operation and MSCT was 4 mm (3 segments). Other differences ofstenotic segments were within 3 mm. Six segments exhibitee mild, 16 moderate and 21 severe stenosis at surgery. By contrast, five segments exhibited mild, 17 moderate and 21 severe stenosis by MPR or CPR,2 mild,9 moderate and 32 severe stenosis by MinIP and 4 mild, 11 moderate and 28 sever stenosis by VR,respectively. There was no significant difference in measuring the degree of tracheobronchial stenosis between MPR or CPR, VR and the surgery (Z =-0. 105,- 1. 479;P ＞0.05), while MinIP frequently overrated the degree of stenosis compared with the measurement at surgery (Z=-2.484,P =0. 013). Conclusion The integrated three dimensional reformations of MSCT scan can accurately evaluate the degree and extent of congenital heart disease associated with tracheobronchial stenosis in children and provide valuable information for clinical management.

Objective To explore the value of 64-slice CT coronary artery angiography in detecting anomalous origin of left coronary artery from the pulmonary artery (ALCAPA) in infants. Methods Ten children aged from 5 months to 2 years and weighed from 5.5 to 10.0 kilograms with surgical confirmed ALCAPA were underwent contrast-enhanced retrospective ECG-gated 64-slice CT, and the data were retrospectively analyezd. Scanning were performed with 80 kV tube voltage, 150 mA tube current, 0.35 s rotation time, 0.625 mm slice thickness and 0.2 pitch. Results The heart rate ranged from 110 to 150 beats per minute. All images were good enough for diagnosis. The radiation dose was 1.11-1.62 mSv. The left coronary arteries were found to originate from the posterior-right sinuse in 4 patients, from posterior-left sinuse in 4 parients, from posterior-right wall and inferior wall above the pulmonary sinuses in 1 patient, respectively. Conclusion The 64-slice CT coronary artery angiography can reveal the location of the ectopic ostium and the course of left coronary artery in ALCAPA infants with low radiation dose.