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OBJECTIVE@#To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province.@*METHODS@#One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed.@*RESULTS@#In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a detection rate of 7.01%. Among these, common variant sites for GJB2, SLC26A4 and GJB3 genes were c.235delC, IVS7-2A>G and c.538C>T, respectively. The variant frequencies of matrilinear inheritance deafness genes MT-CO1, MT-RNR1, MT-TL1 and MT-TS1 were 0.38%, 0.25%, 0.1% and 0.01%, respectively. Four newborns were diagnosed with deafness, among which one had unilateral hearing loss. Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county (51.76% vs. 40%), while the lowest was in Hekou county (30.77% vs. 56.41%).@*CONCLUSION@#The carrier rate of deafness-related variants in Dongying area is higher than other regions of China, which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry. Due to geographical and population aggregation factors, the proportion of deafness variants in the five counties of Dongying differed significantly. Above results may provide a guide for the prevention of congenital deafness in Dongying area.
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Objective@#To study convention MRI compared with conventional MRI combined with diffusion-weighted imaging (DWI) in the evaluation of T-staging of gallbladder carcinoma, and to determine the relationship between the apparent diffusion coefficient (ADC) value and histological grading.@*Methods@#Fifty-one patients with gallbladder carcinoma confirmed by surgery and pathology were enrolled into this study. The T-staging was performed according to conventional MRI or with conventional MRI combined with DWI and the results were compared with pathological studies.@*Results@#The ADC value of tumor was measured to determine the correlation with T staging, pTNM staging and pathological tumor differentiation. For conventional MRI, the T-staging rate was 84.3%, which was consistent with the pathological T scoring (Kappa value 0.7580). After DWI, the T staging coincidence rate was 92.2% and the Kappa value was 0.8813. A comparison between conventional MRI versus conventional MRI combined with DWI T-staging compliance rates was performed using the Chi-square test (χ2=1.5111, P>0.05). The ADC values correlated with the T-staging, pTNM staging, and pathological tumor differentiation (r=-0.672, -0.749, 0.707, respectively, all P<0.05).@*Conclusions@#Conventional MRI helped in the diagnoses of T-staging in gallbladder cancer. MRI combined with DWI helped to improve the coincidence rate of T-staging. The ADC values correlated with the T-staging, pTNM staging, and pathological tumor differentiation. Conventional MRI combined with DWI better evaluated the T-staging of gallbladder cancer, and could better guide the choice of treatment methods.
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Objective To study convention MRI compared with conventional MRI combined with diffusion-weighted imaging (DWI) in the evaluation of T-staging of gallbladder carcinoma, and to determine the relationship between the apparent diffusion coefficient ( ADC) value and histological grading. Methods Fifty-one patients with gallbladder carcinoma confirmed by surgery and pathology were enrolled into this study. The T-staging was performed according to conventional MRI or with conventional MRI combined with DWI and the results were compared with pathological studies. Results The ADC value of tumor was measured to deter-mine the correlation with T staging, pTNM staging and pathological tumor differentiation. For conventional MRI, the T-staging rate was 84. 3％, which was consistent with the pathological T scoring ( Kappa value 0. 7580). After DWI, the T staging coincidence rate was 92. 2％ and the Kappa value was 0. 8813. A compar-ison between conventional MRI versus conventional MRI combined with DWI T-staging compliance rates was performed using the Chi-square test (χ2 =1. 5111, P>0. 05). The ADC values correlated with the T-staging, pTNM staging, and pathological tumor differentiation ( r= -0. 672, -0. 749, 0. 707, respectively, all P<0. 05). Conclusions Conventional MRI helped in the diagnoses of T-staging in gallbladder cancer. MRI combined with DWI helped to improve the coincidence rate of T-staging. The ADC values correlated with the T-staging, pTNM staging, and pathological tumor differentiation. Conventional MRI combined with DWI better evaluated the T-staging of gallbladder cancer, and could better guide the choice of treatment methods.
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Objective To investigate the feasibility of using low Kv,low iodine contrast Agent concentration (dual low)CT scan techniques in Coronary CTA (CCTA).Methods Seventy-six patients undergoing CCTA were divided into Group A and Group B , randomly.Group A (38 patients)was the dual-low group,which was scanned with tube voltage of 100 kVp,and injected with iso-osmolarity contrast agent visipaque 270 (270 mg I/mL),with iterative reconstruction technique (ASIR 40%).Group B (38 pa-tients)was scanned with 120 kVp,and low osmolarity contrast agent omnipaque 350 (350 mg I/mL)and FBP reconstruction,The images are assessed double-blindly by two experienced radiologists.Five ROIs were placed onto the ascending root of aorta (AO), left main artery(LM),left anterior descending (LAD),left circumflex artery(LCX),right coronary artery (RCA),and the image qualities are evaluated objectively using CT values,noise,signal noise ratio (SNR),contrast noise ratio (CNR),and compared sta-tistically using Paired t-test.The radiation dosages,such as CTDIvol,DLP and ED were also recorded and compared with Paired t-test.Results CTDIvol,DLP and ED of Group A (dual low)decreased 35.7%,38.6% and 38.6% respectively compared with Group B,the iodine intake decreased 22.9%.While the image qualities of the two groups were not significantly different,all images are good enough for diagnosis,with Group A slightly better than Group B in radiologists’scores.Conclusion Voltage 100 kVp, combined with low contrast agent concentration of 270 mg I/mL can fully satisfy the diagnostics need in CCTA,and significantly lower both the radiation dosage and iodine intake.