Objective To analyze the mutation status of Kirsten rat sarcoma viral oncogene homolog(KRAS),phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha(PIK3CA),v-raf murine sarcoma viral oncogene homolog B1(BRAF)genes,and the expression of mismatch repair(MMR)and human epidermal growth factor receptor 2(HER-2)proteins in tumor tissues of patients with colorectal cancer(CRC)harboring neuroblastoma rat sarcoma viral oncogene homolog(NRAS)gene mutations,and explore their relationships with the clinicopathological characteristics of CRC patients.Methods The clinicopathological data of 546 patients with NRAS mutation CRC were retrospectively analyzed.The mutation status of NRAS,KRAS,PIK3CA,and BRAF genes was detected by AmoyDx amplification refractory mutation system(ARMS)-polymerase chain reaction(PCR)kit(fluorescent PCR method),the expression levels of MMR and HER-2 proteins were detected by immunohistochemical staining EnVision method,and the relationship between them and the clinicopathological characteristics of patients were analyzed.Results The mutation rate of single-point mutations in the NRAS gene was 98.35%(537/546),double-point mutations in the NRAS gene were 1.65%(9/546),and double mutations in the NRAS and KRAS genes were 1.47%(8/546).No patients were found to harbor mutations in the PIK3CA or BRAF genes.The types of NRAS mutations included Q61R(or Q61K,Q61L,Q61H)mutations(266/546,48.72%),G12D(or G12S)mutations(154/546,28.21%),G13R(or G12C,G12V,G12A,G13V)mutations(134/546,24.54%),and A146T mutation(1/546,0.18%).G13R(or G12C,G12V,G12A,G13V)mutations in the NRAS gene were more likely to occur in the rectum cancer patients(P=0.035);although the tumors had a larger diameter(P=0.029),the patients had a longer progression-free survival after surgery(P=0.028).Among patients with NRAS gene mutations,HER-2 positive expression was associated with perineural invasion(P=0.003),and the patients with deficient MMR were younger on average(P=0.041)and were associated with double-point mutations in the NRAS gene(P=0.018).Conclusion CRC harboring NRAS mutations may have unique clinicopathological characteristics and molecular phenotypes,providing possibilities for individualized treatment and prognosis evaluation of CRC.

Coronavirus disease 2019(COVID-19),which is caused by SARS-CoV-2,varies with regard to symptoms and mortality rates among populations.Humoral immunity plays critical roles in SARS-CoV-2 infection and recovery from COVID-19.However,differences in immune responses and clinical features among COVID-19 patients remain largely unknown.Here,we report a database for COVID-19-specific IgG/IgM immune responses and clinical parameters(named COVID-ONE-hi).COVID-ONE-hi is based on the data that contain the IgG/IgM responses to 24 full-length/truncated proteins corresponding to 20 of 28 known SARS-CoV-2 proteins and 199 spike protein peptides against 2360 serum samples collected from 783 COVID-19 patients.In addition,96 clinical parameters for the 2360 serum samples and basic information for the 783 patients are integrated into the database.Furthermore,COVID-ONE-hi provides a dashboard for defining samples and a one-click analysis pipeline for a single group or paired groups.A set of samples of interest is easily defined by adjusting the scale bars of a variety of parameters.After the"START"button is clicked,one can readily obtain a comprehensive analysis report for further interpretation.COVID-ONE-hi is freely available at www.COVID-ONE.cn.

Objective: To explore the application values of prenatal ultrasound, vascular cast in the diagnosis of fetal aortic arch and its branches anomalies and to analyze the genetic characteristics by gene detection. Methods: Twenty-two cases of the vascular cast specimens of the fetal aortic arch and its branches anomalies were analyzed and studied by comparing with their prenatal ultrasonography. Then the characteristics of each type of fetal aortic arch and its branches anomalies, the missed diagnosis and misdiagnosis were summarized and the results of their gene detection were also analyzed. Results: The 22 cases of fetal aortic arch and its branches anomalies were as follows: 2 cases of double aortic arch showed the ascending aorta was divided into two branches after converging as the descending aorta. Three cases were left aortic arch with aberrant right subclavian artery. Twelve cases were right aortic arch: 8 cases were right aortic arch with mirror-image branching, 3 cases were right aortic arch with aberrant left subclavian artery, 1 case was right aortic arch with isolated left subclavian artery. Of the 8 right aortic arch with mirror-image branching, 3 cases of left arterial duct showed the vertical walking between the fusion site of the left innominate artery and the pulmonary artery. Right aortic arch with aberrant left subclavian artery with arterial duct showed "U" shaped vascular ring. Five cases were other types, including 2 cases of the coarctation of aortic arch, 1 case of interrupted aortic arch, 1 case of pulmonary artery sling, and 1 case of abnormal origin of right pulmonary artery. The ultrasonic missed diagnosis were the 6 deformities: 3 cases of arterial duct and 3 cases of aberrant subclavian artery. The ultrasonic misdiagnosis were the 5 deformities: 2 cases of arterial duct location, 1 case of aberrant subclavian artery, 1 case of isolated left subclavian artery, and 1 case of the coarctation of aortic arch. Genetic test results: In the 18 cases of the genetic detection, 2 cases were positive, 1 case was 22q11.2 microdeletion syndrome and 1 case was carrying KMT2D gene variant. Conclusions There are various kinds of fetal aortic arch and its branches anomalies, which are often associated with intracardiac malformations and venous branches variation. And prenatal ultrasound is of great value in diagnosing them.Vascular cast can visually display their characteristic changes, which is helpful to improve the differential diagnosis of the different aortic arch and its branches anomalies. The detailed genetic detection can improve the further understanding of its etiology.

Objective To explore the value of the cavum vergae vanishing sign for prenatal ultrasound diagnosis of fetal agenesis of the corpus callosum ( ACC ) . Methods Fifty-one cases of ACC of 20 - 32 gestational weeks were confirmed by MRI or induced fetal autopsy . A random selection of 80 normal fetuses of 20 - 32 gestational weeks were chosed as control group . The displays of the cavum septum pellucidum ( CSP) and the cavum vergae( CV ) in the two groups were observed . Results There were 36 cases of complete agenesis of the corpus callosum ( CACC) and 15 cases of partial agenesis of the corpus callusom ( PACC) in ACC group . In 51 ACC cases ,43 cases were confirmed by prenatal MRI ,while 8 cases were confirmed by postnatal MRI . The comparison of display of CSP and CV between the ACC group and the health group was as follows : ① CSP vanishing rate in ACC group was 70 .6％ ( 36/51 ) ,meanwhile the disappearance rate of CSP in the health group was 0 ( 0/80 ) ,the difference between the two groups was statistically significant( χ2 = 77 .870 , P = 0 .000) . ② CV vanishing rate in ACC group was 96 .1％ (49/51) , meanwhile the disappearance rate of CV in the health group was 1 .2％ ( 1/80) ,the difference between the two groups was statistically significant ( χ2 = 118 .673 , P = 0 .000) . The correlation coefficient between the CV vanishing sign and the occurrence of ACC was 0 .952 ( P = 0 .000) ,while the correlation coefficient between the CSP vanishing sign and the occurrence of ACC was 0 .771 ( P = 0 .000) . There were significant differences in CSP disappearance rate and CV disappearance rate between ACC group and control group at different gestational weeks ( 20 - 24 weeks ,25 - 28 weeks and 29 - 32 weeks) ( all P < 0 .001) . Conclusions The cavum vergae vanishing sign ,as an important indirect sign of fetal agenesis of the corpus callosum ,can be obtained quickly from horizontal transverse section of the cavum septum pellucidum . During the middle pregnancy ,it could be an important prenatal ultrasound screening clue for fetal agenesis of the corpus callosum .

Objective To explore the effect of blood oxygen saturation on the hemodynamics in fetuses with complete transposition of the great artery ( CTGA ) without outflow tract obstruction in the second trimester of pregnancy . Methods The brain biometry and hemodynamics parameters were retrospectively analyzed in 38 fetuses with CTGA from multiple medical centers .All the fetuses with CTGA were divided into two groups ,ventricular septal defect ( VSD) group( 14 cases) and no VSD group( 24 cases) according to the VSD . Twenty-four gestational age (GA)-matched fetuses were chosed as control group . The biparietal diameter (BPD) and head circumference ( HC) ,pulsatility indexes ( PI) in the middle cerebral artery (MCA) and the umbilical artery ,the cerebroplacental ratio (CPR) were compared among different groups . Results There were no significant differences in GA ,BPD ,HC ,MCA-PI ,UA-PI and CPR among control group ,CTGA with VSD group and CTGA without VSD group in the second trimester of pregnancy ( P ＞0 .05) . Conclusions The altered oxygen saturation of the cerebral circulation in CTGA does not affect the brain biometry and hemodynamics in fetuses in the mid-gestational age .

Objective To explore the value of prenatal ultrasound,autopsy and vascular cast in diagnosis of right atrial isomerism(RAI).Methods Forty cases diagnosed as RAI by prenatal ultrasound from May 2012 to May 2017 were analyzed.And the results of autopsy and vascular cast after odinopoeia were compared,then up the characteristics of RAI were summed.The feature of venous drainage was the point.Results For all the 40 cases,the relative position of magenblase,the cross section of aortaventralis, the cross section of inferior vena cava and umbilical vein were lost"C"shape view.In intracardiac anomalies magenblase and cardiac apex on the different sides accounted for 77.5%,the atrioventricular septal defect accounted for 67.5%,the right ventricle double outlet accounted for 65.0%,and pulmonary artery stenosis accounted for 52.5%.The major finding of venous drainage were:bilateral superior vena cava accounted for 52.5%,left inferior vena cava accounted for 60.0%,abnormal hepatic venous drainage accounted for 20.0%,pulmonary vein co-antrum accounted for 45.0%.Three cases of cardiac malformation and 4 cases of abnormal pulmonary venous drainage were misdiagnosed,and 4 cases of abnormal hepatic venous drainage were missed by prenatal ultrasound.Conclusions RAI always combines distinctive cardiac malformations and abnormal venous drainage.Prenatal ultrasound has significant diagnostic value.It's important to have further understanding about RAI through the feedback of autopsy and vascular cast.