With high accuracy and precision,next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases.To follow a standardized experimental procedure is the prerequisite to obtain stable,reliable,and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases.At a conference of genetic testing industry held in Shanghai,May 2019,physicians engaged in the diagnosis and treatment of genetic diseases,experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases.Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection,reception,preservation,library construction,sequencing and data quality control.Based on the discussion,a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.

[Objective] To investigate the clinical value of using prospective ECG-gating Helical protocol in whole aorta and coronary arteries CT angiography combined with low tube voltage,low contrast medium injection rate and dose technology.[Methods]A total of 60 patients (heart rate≤ 75 bpm and normal heart rhythm) with suspected aortic disease or post-operation were randomly divided into 2 groups:G1 (n =30;tube voltage:80 kV;contrast medium injection rate:3 mL/s;contrast medium dose:0.65 mL/kg)and G2 (n =30;tube voltage:120 kV;contrast medium injection rate:4 mL/s;contrast medium dose:1.2 mL/kg).The two groups underwent aorta angiography with prospective ECG-gating Helical protocol by using 320-detector CT.The mean CT values and standard deviation of aorta,coronaries and adjacent adipose tissue were measured,signal to noise ratio (signal-to-noise ratio,SNR)and contrast to noise ratio (contrast-to-noise ratio,CNR) were calculated.The subjective quality scoring of 3-d post-processing images were evaluated independently by 2 senior radiologists.The mean CT values and standard deviation of aorta,coronaries and adipose tissue,SNR,CNR,subjective quality scoring,contrast medium dose and radiation dose were compared and analyzed.[Results] The abnormal and normal rate of aorta in two groups were 83.33％ (25/30),16.67％ (5/30) and 86.67％ (26/30),13.33％(4/30);while the abnormal and normal rate of coronary arteries in two groups were 43.33％ (13/30),56.67％ (17/30) and 53.33％(16/30),46.67％ (14/30).SNR values of ascending aorta,descending aorta,abdominal aorta,superior mesenteric artery,bilateral renal artery,left main coronary artery,left anterior descending branch,left circumflex branch,right coronary artery and CNR values of abdominal aorta,superior mesenteric artery,bilateral renal artery,left anterior descending branch,left circumflex branch had no statistical significance,while the other indicators were significant differences between the two groups.The radiation dose and the contrast medium dose of G1 was significantly lower than G2 (P ＜ 0.05).There was no difference in the subjective image quality of 3D post-processing images between the two groups (P ＞ 0.05).[Conclusions] Using prospective ECG-gating Helical protocol in whole aorta and coronary arteries CT angiography combined with low tube voltage,low contrast medium injection rate and low contrast medium dose technology can help to reduce radiation and contrast medium dose without impacting on the imaging quality satisfactorily.

[Objective] To measure the diameter of the superior rectal vein (SRV) & theinferior mesenteric vein (IMV) by CT and analyze their relationship with lymphatic metastasis of rectal carcinoma.And to discuss the feasibility of utilizing SRV to prcdict lymph node metastasis of rectal cancer.[Methods] The CT imaging and pathological data of 105 rectal carcinoma patients were analyzed retrospectively.We measured and compared the diameter of every patient's SRV & IMV by CT in the presence and absence of microvascular tumor thrombus,signet ring cell,lymph node metastasis and distant metastasis.The accuracy of predicting lymph node metastasis for rectal carcinoma by the diameter of SRV were evaluated by ROC curve.[Results] There were statistical differences in the diameters of SRV and IMV between rectal cancer group with lymph node metastasis (D =4.34 mm,D =5.00 mm) and without (D =3.56 mm,D =4.81 mm;P ＜ 0.001,P =0.023).The differences were significant in the diameter of SRV between rectal cancer group with microvascular tumor thrombus or signet ring cell and without (P =0.019,P =0.044).However,the diameter of IMV showed no statistical difference between rectal cancer group with microvascular tumor thrombus or signet ring cell and without (P =0.605,P =0.663).And there was no statistical difference in the diameter of SRV or IMV between rectal cancer patients with distant metastasis and without (P ＞ 0.05).Regarding 3.75 mm as the cut-off value for the diameter of SRV to predict lymph node metastasis for rectal cancer patients,the sensitivity was 90.9％ and the specificity was 82.0％.Regarding 4.65 mm as the cut-off value for the diameter of IMV to predict lymph node metastasis for rectal cancer patients,the sensitivity was 87.3％ and the specificity was 38％.[Conclusions] It is completely feasible to utilize the diameter of SRV measured by CT to predict lymph node metastasis of rectal carcinoma with high sensitivity,accuracy,and relatively high specificity.

Objective: To evaluate the impacts of the prognostic factors of T2N0M0 upper tract urothelial carcinoma (UTUC) for Chinese patients.Methods: A retrospective study was conducted including 235 patients who were diagnosed with T2N0M0 UTUC in our hospital and received radical nephroureterectomy (RNU) or partial ureterectomy during January 2000 and December 2013.The 3 and 5-year can-cer-specific survival rates and bladder recurrence-free survival rates of all the patients were valued using Kaplan-Meier method, and the survival curves with statistical significance between the two were compared using the Log-rank test.Variables with significant differences in the univariate analysis were subjected to the multivariate analysis by Cox regression model.Results: A total of 235 patients were included in this study, including 95 (40.4%) male patients and 140 (59.6%) female patients.The mean age was 66.73±10.49 years.The median follow-up time was 53 (rang: 3-142) months, and during the follow-up, 74 (31.5%) patients died of UTUC after a median of 35 months,and 96 (40.9%) patients developed intravesical recurrence after a median of 19.5 months.The 3 and 5-year cancer-specific survival rates of all the patients were 89.1% and 85.9%, respectively;the bladder recurrence-free survival rates were 85.5% and 80.2%, respectively.The independent prognostic factors of cancer-specific mortality were tumor age elder than 55 years (HR=3.138, 95%CI: 1.348-7.306, P=0.008) and diameter larger than 5 cm (HR=3.320, 95%CI: 1.882-5.857, P<0.001).The independent prognostic factors of bladder recurrence-free survival were ureter tumor (HR=1.757, 95%CI: 1.159-2.664, P=0.008) and lower tumor grade (HR=1.760, 95% CI: 1.151-2.692, P=0.009).Conclusion: T2N0M0 UTUC has a better cancer-specific survival.The intravesical recurrence was equivalent to non-muscle invasive UTUC but earlier.The tumor diameter larger than 5 cm and the patient age elder than 55 years were independently associated with cancer-specific mortality;the primary tumor located in ureter and lower tumor grade were more likely to develop intravesical recurrence.

Objective To evaluate the risk factors and prognosis of high risk bladder recurrence developing after radical nephroureterectomy(RNU) for upper tract urothelial carcinoma (UTUC).Methods The data of 148 UTUC patients who developed bladder tumor after RNU between January 2000 and December 2013 was retrospectively studied.There were 69 males and 79 females,aged from 34 to 82 years old (average 68 years old).83 patients were accompanied with hydronephrosis.80 patients were renal pelvic carcinoma.32 patients had the history of smoking.24 patients had the history of ureteroscope.68 patients had the tumor larger than 3 cm.Logistic regression model was used to analyze the risk factors of muscle invasive and high grade bladder recurrence lesions.We compared the clinocopathologic characteristics between primary UTUC and bladder cancer recurrence by using Fisher' s exact test.Cancer specific survival was analyzed using the Kaplan-Meier method,with the log-rank test used to assess significance.A Cox proportional hazard model was used for multivariate analysis.Results Of the 148 patients,non-muscle invasive (Tis、Ta and T1) tumors of primary UTUC and bladder recurrence were 51 (34.5％) and 119 (80.4％),respectively.High grade (G3) tumors of primary UTUC and bladder recurrence were 41 (27.7％) and 53(35.8％),respectively.During follow-up,94 (63.5％) experienced bladder recurrence once and 54 (36.5％) experienced multiple bladder recurrence.The median follow-up time was 59.5 (rang 8-142) months,48 (32.4％) patients died of UTUC.The grade of bladder cancer recurrence correlated with the grade (P =0.046),muscle-invasion (P =0.002) and tumor architecture (P =0.034) of the primary UTUC;muscle-invasive bladder cancer recurrence associated with that of the primary UTUC (P =0.009);bladder multiple recurrence related to gender (P =0.007).On multivariate logistic regression analysis,the muscle-invasion of primary UTUC was an independent risk factor for muscle-invasive (HR =5.512,95％ CI 1.654-18.37,P =0.004) and high grade (HR =3.948,95％ CI 1.589-9.813,P =0.004) bladder recurrence tumor.The muscle invasion of primary UTUC (HR =3.498,95％ CI 1.569-7.803,P =0.002) was a prognostic factor for cancer specific survival on multivariate Cox regression analysis.Conclusions Muscle-invasive UTUC tend to predict high risk bladder recurrence tumor,and the female could be more likely to appear multiple recurrence tumor.The muscle invasion of primary UTUC could be an independent prognostic factor for cancer specific survival.

Objective:To study the mechanism of anti-proliferative effect of lupeol on highly metastatic human hepatocellular car-cinoma HCCLM3 cells. Methods:CCK-8 assay was performed to evaluate the effects of lupeol at different concentration on cell viability in 12-48 h. Caspase inhibitors were used to identify the subtypes of caspases activated during lupeol-induced cell death. The effects of lupeol on the mRNA expression of caspase family and Bcl-2 related genes were detected by real-time PCR. The effects of lupeol on HC-CLM3 cell phase distribution were investigated by flow cytometry. Results:Compared with the control group, lupeol could inhibit HC-CLM3 cell proliferation in a concentration-dependent manner with IC50 of 93 μmol·L-1 in 24h. The number of HCCLM3 cells in the period of G2/M was increased by 1-fold when the lupeol concentration was within 60-100 μmol·L-1 . Lupeol could activate the path-way of caspase, and the mRNA expression of caspase-3 was elevated by 50%-150% when compared with that in the control group. Mo-reover, the mRNA expression of p53 and Bax were increased above 1-fold by lupeol at 100 μmol·L-1 , and the Bcl-2 and PARP ex-pression were significantly suppressed by lupeol at 60-100 μmol·L-1(P<0. 05 or P<0. 01). Conclusion:The results indicate that lupeol has anti-proliferative effect on the liver cancer cells, which is beneficial to the prevention and treatment of liver cancer.

Yolk sac tumor (YST) is a rare germ cell neoplasm of childhood that usually arises from the testis or ovary. The rare cases of YST in various extragonadal locations have been reported, but the primary intrarenal YST is even more uncommon. Here, we report a case of a primary intrarenal YST with tumor thrombus of the inferior vena cava and left renal vein in a 2-year-old boy, with an emphasis on the CT features. To our knowledge, this is the first reported case of an intrarenal YST with intravascular involvement.
Child, Preschool ; Humans ; Male ; Neoplasms, Germ Cell and Embryonal/*diagnosis/pathology/ultrasonography ; Renal Veins/pathology/*radiography ; Thrombosis/pathology/radiography ; *Tomography, X-Ray Computed ; Vena Cava, Inferior/pathology/*radiography

OBJECTIVETo explore the value of comprehensive application of CT and PET/CT in differential diagnosing mucinous and non-mucinous colorectal adenocarcinoma.

METHODSCT and PET/CT image data of 37 patients with mucinous adenocarcinoma and 50 patients with non-mucinous adenocarcinoma confirmed by pathology in our hospital from January 2010 to December 2012 were analyzed retrospectively. Differences of image were compared between two methods.

RESULTSOn CT, lesion density of pre-contrast, pro-contrast phase and enhancement degree were significantly lower in mucinous adenocarcinoma than those in non-mucinous adenocarcinoma(all P<0.01). Enhancement degree of hypointense area, hypointense area proportion of total lesion, and lymphatic or distant metastasis ratio were significantly higher in mucinous adenocarcinoma than those in non-mucinous adenocarcinoma(all P<0.05). On PET/CT, maximal SUV value of mucinous adenocarcinoma was significantly lower as compared to non-mucinous adenocarcinoma[(8.64±4.34) Bq/L vs. (12.38±5.96) Bq/L, P=0.015].

CONCLUSIONSCT combined with PET/CT provides better valuable information in differential diagnosing between mucinous and non-mucinous colorectal adenocarcinoma and clinical practice.

Adenocarcinoma ; diagnostic imaging ; Adenocarcinoma, Mucinous ; diagnostic imaging ; Colorectal Neoplasms ; diagnostic imaging ; Humans ; Multimodal Imaging ; Positron-Emission Tomography ; Retrospective Studies ; Tomography, X-Ray Computed

Objective To study the feasibility of reducing radiation dose in aorto-iliac and lower extremity arteries CT angiography (CTA) with low tube voltage (100 kV) and automatic tube current modulation(ATCM).Methods Totally 61 patients requiting aorto-iliac and lower extremity arteries CTA for clinical reasons were prospectively enrolled in study.The patients were randomly assigned to 3 groups:Group A(120 kV),Group B (100 kV) and Group C (100 kV with automatic tube current modulation).Both quantitative and qualitative analysis were included in this research.Group C was divided into obese group(BMI≥ 24.9 kg/m2) and normal group(BMI ＜ 24.9 kg/m2).The radiation doses were analyzed respectively among two groups.Results The subjective evaluations of image quality for axial,MIP and VR were good.There were no significant differences among group A,B and C in SNR and CNR (P ＞0.05).The effective dose of group A,B and C was 8.20 mSv,5.36 mSv,and was 7.48 mSv,respectively Group B was 34.6％ less than group A.Group C was 39.5％ more than group B,and there was no significant differences between group A and C (P ＞ 0.05).The effective dose of group C1 was 7.11mSv,group C2 was 9.69 mSv,the E with group C1 were significantly less than group C2 (t =-3.163,P ＜0.05),the effective dose of group C1 was 13.3％ less than group A (Z =-2.822,P ＜ 0.05),but the group C2 was more than group A (P ＞ 0.05) and group B (Z =-3.426,P ＜ 0.05).Conclusions Lowkilovoltage (100 kV) CT scanning protocol is feasible in multi-detector CT angiography for aortoiliac and lower extremity arteries.Automatic low tube voltage (100 kV) with automatic tube current modulation (ATCM) scanning protocol can be used for someone with BMI less than 24.9 kg/m2.

Objective To discuss the clinical application and significance of non-enhanced computed tomography axis rotating movie imaging technique in PCNL for complex renal calculi. Methods Thirty-one cases unilateral and 2 cases bilateral multiple and staghorn renal calculi with mild or mediurn hydronephrosis patients were performed bilateral kidneys non-enhanced CT scanning,three dimensional reconstruction and the axis rotating movie composition were carried on by computer software,PCNL accesses were designed and the residual stone were predicted referred to the access-calyces angle measured in axis rotating movie image,PCNL were performed after while.Comparing between preoperation accesses design and residual stone prediction with in-operation practice were carried out.Results The first PCNL access was constructed via posterior middle upper minor calyces in 22 renal units and via posterior middle lower minor calyces in 13 renal units,which was consistent with pre-operation design according to CT axis rotating movie image.The second PCNL accesses were constructed via lower calyx posterior upper minor calyces in 9 renal units and via lower calyx posterior lower minor calyces in 5 renal units,nephrolithotomy were performed in the same operation,clinical stone clearance rate was 80%(28/35),other 7 cases with residual stone were consistent with pre-operation prediction,No blood transfusion was necessary and no severe complication happened in all 33 cases.Conclusions Non-enhanced CT axis rotating movie imaging provided the detail three dimensional shape and spatial structure of complex renal calculi intuitively) that was benefit for designing appropriate PCNL accesses for complex renal calculi patients, guiding for searching stone fragments in operation, predicting residual stone, and ensuring operation safety.