Objective To compare the colonoscopy results of patients with positive fecal SDC2,ADHFE1,and PPP2R5C gene methylation tests to those with positive fecal occult blood tests,and analyze the effectiveness of colorectal cancer(CRC)screening.This study aims to provide a scientific basis for risk assessment in CRC screening.Methods From December 2023 to May 2024,9 284 combined test kits for SDC2,ADHFE1,and PPP2R5C gene methylation were distributed to high-risk individuals aged 40～80 years.Among them,841 patients(9.1％)tested positive.These patients were encouraged via telephone to undergo colonoscopy,with colonoscopy combined with pathological diagnosis as the gold standard,a total of 495 positive patients completed electronic colonoscopy.Among them,the 251 patients who tested positive for fecal SDC2,ADHFE1,and PPP2R5C gene methylation and completed electronic colonoscopy were the observation group;concurrently,244 patients who tested positive for fecal occult blood tests and underwent electronic colonoscopy were selected as the control group.Compare two groups of patients with polyp,number,shape,pathological changes and pathological types.Results There was no statistically significant difference in number and lesion location of polyps between the two groups of patients(P>0.05).The proportion of Yamada type Ⅰ in the observation group was lower than that in the control group,while the proportion of Yamada type Ⅱ was higher than that in the control group.The difference was statistically significant(P<0.05).In the observation group,1 case(0.4％)of CRC,62 cases(24.7％)of advanced adenomas,78 cases(31.1％)of non-advanced adenomas,20 cases(8.0％)of hyperplastic polyps,and 90 cases(35.9％)with no dysplastic lesions were identified.In the control group,6 cases(2.5％)of CRC,38 cases(15.6％)of advanced adenomas,53 cases(21.7％)of non-advanced adenomas,19 cases(7.8％)of hyperplastic polyps,and 128 cases(52.5％)with no dysplastic lesions were identified.The proportions of non-advanced adenomas and advanced adenomas were lower in the control group than those in the observation group,while the no dysplastic lesions rate was higher in the control group,the differences were statistically significant(P<0.05).Conclusion The detection rate of colorectal non-advanced adenomas and advanced adenomas is higher with fecal SDC2,ADHFE1,and PPP2R5C gene methylation testing compared to the fecal occult blood test.

Objective To compare the colonoscopy results of patients with positive fecal SDC2,ADHFE1,and PPP2R5C gene methylation tests to those with positive fecal occult blood tests,and analyze the effectiveness of colorectal cancer(CRC)screening.This study aims to provide a scientific basis for risk assessment in CRC screening.Methods From December 2023 to May 2024,9 284 combined test kits for SDC2,ADHFE1,and PPP2R5C gene methylation were distributed to high-risk individuals aged 40～80 years.Among them,841 patients(9.1％)tested positive.These patients were encouraged via telephone to undergo colonoscopy,with colonoscopy combined with pathological diagnosis as the gold standard,a total of 495 positive patients completed electronic colonoscopy.Among them,the 251 patients who tested positive for fecal SDC2,ADHFE1,and PPP2R5C gene methylation and completed electronic colonoscopy were the observation group;concurrently,244 patients who tested positive for fecal occult blood tests and underwent electronic colonoscopy were selected as the control group.Compare two groups of patients with polyp,number,shape,pathological changes and pathological types.Results There was no statistically significant difference in number and lesion location of polyps between the two groups of patients(P>0.05).The proportion of Yamada type Ⅰ in the observation group was lower than that in the control group,while the proportion of Yamada type Ⅱ was higher than that in the control group.The difference was statistically significant(P<0.05).In the observation group,1 case(0.4％)of CRC,62 cases(24.7％)of advanced adenomas,78 cases(31.1％)of non-advanced adenomas,20 cases(8.0％)of hyperplastic polyps,and 90 cases(35.9％)with no dysplastic lesions were identified.In the control group,6 cases(2.5％)of CRC,38 cases(15.6％)of advanced adenomas,53 cases(21.7％)of non-advanced adenomas,19 cases(7.8％)of hyperplastic polyps,and 128 cases(52.5％)with no dysplastic lesions were identified.The proportions of non-advanced adenomas and advanced adenomas were lower in the control group than those in the observation group,while the no dysplastic lesions rate was higher in the control group,the differences were statistically significant(P<0.05).Conclusion The detection rate of colorectal non-advanced adenomas and advanced adenomas is higher with fecal SDC2,ADHFE1,and PPP2R5C gene methylation testing compared to the fecal occult blood test.

OBJECTIVE: To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype. METHODS: 148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed. RESULTS: In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01). CONCLUSION The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.
Humans ; Infant, Newborn ; Cardiomyopathies/diagnosis* ; Carnitine ; Hyperammonemia/diagnosis* ; Muscular Diseases/genetics* ; Solute Carrier Family 22 Member 5/genetics*

Objective:To study the predictive value of combining alpha-feto protein (AFP) with contrast-enhanced MRI imaging features in predicting incidence of microvascular invasion (MVI) in patients with hepatocellular carcinoma.Methods:The data of 206 patients with hepatocellular carcinoma treated at Tianjin Medical University Cancer Institute and Hospital from January 2017 to April 2019 were retrospectively analyzed. There were 179 males and 27 females, with an average age of 58.7 years. The roles of preoperative MRI imaging features and clinical data on predicting the incidence of MVI in patients with hepatocellular carcinoma were evaluated by univariate and multivariate logistic regression analyses. Multivariable regression analysis was then used to plot a nomogram.Results:There were 86 patients (41.7%) with MVI positivity and 120 patients (58.3%) with MVI negativity. Multivariate logistic regression analysis showed that AFP >400 μg/L ( OR=3.318, 95% CI: 1.243-8.855, P=0.017), two-trait predictor of venous invasion (TTPVI) ( OR=13.111, 95% CI: 6.797-28.119, P<0.001), diffusion weighted imaging/T 2 weighted imaging (DWI/T 2WI) mismatch ( OR=17.233, 95% CI: 4.731-44.490, P<0.001), and rim enhancement( OR=5.665, 95% CI: 2.579-18.152, P=0.013) predicted increased risks of MVI in patients with hepatocellular carcinoma. The constructed nomogram directly predicted the risk of MVI in these patients. Conclusions:AFP>400 μg/L, TTPVI, DWI/T 2WI mismatch and rim enhancement were independent risk factors in predicting MVI in patients with hepatocellular carcinoma. This predictive model of MVI which was based on multivariate logistic regression analysis was helpful to clinicians in making individualized treatment plans for patients with hepatocellular carcinoma.

Objective:To screen the biomarkers in the exhaled breath of mice exposed to benzene by using exhaled breath online analysis system.Methods:Thirty 8-week-old male C57BL/6 mice were randomly divided into six groups (0, 3, 32, 324, 648, and 1 296 mg/m 3) and treated with benzene vapour for 28 days. At the end of the exposure, the peripheral blood cell counts and blood glutathione (GSH) were detected. The content of malondialdehyde (MDA) in HL60 cells treated by mice plasma was examined. Exhaled breath data from mice were collected by Secondary electrospray ionization source high resolution mass spectrometry (SESI-HRMS). Targeted analysis underlying benzene metabolites and oxidative stress metabolites was performed to screen the biomarkers in exhaled breath. Results:After benzene exposure, the number of peripheral blood cells was decreased in different degrees, particularly in the white blood cells (WBC) number. The WBC in 32 and 324 mg/m 3 groups was declined by 27.76% and 52.87%, respectively compared to that in control group ( P<0.05). Meanwhile, compared with the control group, the GSH content of peripheral blood cells from 324 mg/m 3 group decreased by 13.16% ( P<0.05). In addition, MDA content was increased by 18.11% in HL60 cells treated with plasma from 324 mg/m 3 group mice ( P<0.05). The phenol, hydroquinone/catechol, benzenetriol and trans, trans-Muconic acid ( t,t-MA) in the exhaled gas of mice could be used as biomarkers for benzene exposure ( R 2>0.8, P<0.001). The peak intensity of five small molecular metabolites related to oxidative stress (ω-carboxylic fatty acid C 5H 10O 3, ω-carboxylic fatty acid C 6H 12O 3, glutamate, cysteine and MDA) increased with the increase of benzene concentration ( P<0.05), which was negatively correlated with WBC decline ( P<0.001), suggesting that these molecules mignt be used as biomarkers of benzene-induced toxicity. Conclusions:Phenol, hydroquinone/catechol, benzenetriol and trans, trans-Muconic acid ( t,t-MA) in exhaled breath of mice could be used as biomarkers for benzene exposure; ω-carboxylic fatty acid C 5H 10O 3, ω-carboxylic fatty acid C 6H 12O 3, glutamate, cysteine and MDA might be used as markers of benzene-induced toxicity.

Objective:To screen the biomarkers in the exhaled breath of mice exposed to benzene by using exhaled breath online analysis system.Methods:Thirty 8-week-old male C57BL/6 mice were randomly divided into six groups (0, 3, 32, 324, 648, and 1 296 mg/m 3) and treated with benzene vapour for 28 days. At the end of the exposure, the peripheral blood cell counts and blood glutathione (GSH) were detected. The content of malondialdehyde (MDA) in HL60 cells treated by mice plasma was examined. Exhaled breath data from mice were collected by Secondary electrospray ionization source high resolution mass spectrometry (SESI-HRMS). Targeted analysis underlying benzene metabolites and oxidative stress metabolites was performed to screen the biomarkers in exhaled breath. Results:After benzene exposure, the number of peripheral blood cells was decreased in different degrees, particularly in the white blood cells (WBC) number. The WBC in 32 and 324 mg/m 3 groups was declined by 27.76% and 52.87%, respectively compared to that in control group ( P<0.05). Meanwhile, compared with the control group, the GSH content of peripheral blood cells from 324 mg/m 3 group decreased by 13.16% ( P<0.05). In addition, MDA content was increased by 18.11% in HL60 cells treated with plasma from 324 mg/m 3 group mice ( P<0.05). The phenol, hydroquinone/catechol, benzenetriol and trans, trans-Muconic acid ( t,t-MA) in the exhaled gas of mice could be used as biomarkers for benzene exposure ( R 2>0.8, P<0.001). The peak intensity of five small molecular metabolites related to oxidative stress (ω-carboxylic fatty acid C 5H 10O 3, ω-carboxylic fatty acid C 6H 12O 3, glutamate, cysteine and MDA) increased with the increase of benzene concentration ( P<0.05), which was negatively correlated with WBC decline ( P<0.001), suggesting that these molecules mignt be used as biomarkers of benzene-induced toxicity. Conclusions:Phenol, hydroquinone/catechol, benzenetriol and trans, trans-Muconic acid ( t,t-MA) in exhaled breath of mice could be used as biomarkers for benzene exposure; ω-carboxylic fatty acid C 5H 10O 3, ω-carboxylic fatty acid C 6H 12O 3, glutamate, cysteine and MDA might be used as markers of benzene-induced toxicity.

Objective: To investigate the prognostic value of chest computed tomography (CT) characteristics in crizotinib-treated pa-tients with advanced non-small cell lung cancer (NSCLC). Methods: Forty-seven patients with advanced ALK-rearranged NSCLC who re-ceived crizotinib treatment from January 2014 to March 2017 were enrolled in this retrospective study. Pre-treatment CT characteris-tics were evaluated. Patients were followed up after crizotinib treatment, and the best overall response and progression-free survival (PFS) were assessed according to the Response Evaluation Criteria in Solid Tumors (RECIST version 1.1). Results: The median PFS of all patients was 10 months. There was no association between CT characteristics and response. In univariate analysis, large tumor size (P=0.009), central type (P=0.002), consolidation of surrounding lung tissue (P=0.002), pleural effusion (P=0.001), and lymphangitic carcino-matosis (P=0.019) suggested a poor prognosis. Multivariate Cox regression analysis showed that location (hazard ratio, 3.219; 95% con-fidence interval: 1.517-6.833; P=0.002) was an independent prognostic predictor. Conclusions: Pre-treatment CT characteristics are useful in predicting the PFS of crizotinib-treated patients with advanced NSCLC harboring ALK rearrangement.

To investigate the correlation between magnetic resonance imaging (MRI) features and tumor risk grade of gas-trointestinal stromal tumors (GISTs). Methods: Between September 2007 to December 2017, 54 patients who underwent MRI and were pathologically diagnosed in Tianjin Medical University Cancer Institute and Hospital were retrospectively reviewed. We analyzed MRI features including the size, location, shape, boundary, and growth pattern of the tumor; cystic necrosis; metastasis; T1WI and T2WI signal intensities; enhancement signal intensity-time (SIT) curve pattern; and average apparent diffusion coefficient (ADC) val-ues. The MRI features were compared with the tumor risk grade. Results: Of the 54 cases, 16 were of low-risk grade, 13 were of inter-mediate-risk grade, and 25 were of high-risk grade. Statistical analysis showed that tumor size, location, shape, boundary, cystic necro-sis, signal intensity, and average ADC values were correlated with tumor risk grade (P<0.05). However, tumor growth pattern, metasta-sis, and enhancement SIT curve pattern were not correlated with tumor risk grade (P>0.05). GISTs with higher aggressive features were more likely to have larger size, irregular shape, unclear boundary, cystic necrosis, heterogeneous signal intensity, and lower ADC values on MRI. Conclusions: MRI has the potential to predict the risk grade of GISTs before surgery, thereby guiding clinical manage-ment, and evaluating prognosis.

Objective:To discuss the value of CT quantitative parameters in prediction of the invasiveness of pulmonary mixed ground glass nodules(mGGNs).Methods:CT images of 164 patients with pulmonary ground-glass nodules(mGGNs),enrolled in Tianjin Medi-cal University Cancer Institute and Hospital from January 2013 to September 2016,confirmed by surgical pathology were analyzed ret-rospectively.CT quantitative parameters including maximum diameter,largest diameter perpendicular to the maximum diameter,vol-ume on both pulmonary window and mediastinal window,mean CT value and TDR(tumor shadow disappear rate)were evaluated be-tween minimally invasive adenocarcinoma (MIA) and invasive adenocarcinoma (IAC) with ROC and Logistic regression analysis. Re-sults:Logistic regression analysis showed that the maximum diameter of the pulmonary window(OR=3.080,95% CI:1.135-8.355,P=0.027)and the maximum diameter of the mediastinal window(OR=5.881,95%CI:1.634-21.166,P=0.007)independently predicted the invasiveness of mGGNs;the corresponding values of area under the curve of the combination of two parameters were 0.855,with sen-sitivity of 77.61% and specificity of 86.67 %.The cut-off point to the corresponding value of the maximum diameter on pulmonary win-dow and mediastinal window was 1.902cm and 1.273cm,respectively.Conclusions:CT quantitative parameters are helpful in predict-ing the invasiveness of mGGNs.The maximum diameters on both pulmonary window and mediastinal window are independent predic-tors.

Objective:To explore the efficacy of low-dose computed tomography (LDCT) baseline and follow-up scans of lung cancer screening and to analyze lung nodules and other thoracic lesions detected from baseline and follow-up. Methods:A total of 650 sub-jects were enrolled in the LDCT lung cancer screening program, and investigators mainly focused on the analysis of 548 subjects who participated in the follow-up scan. The investigators recorded the nodules and other lesions of baseline screening, compared them with the follow-up images, and recorded their progress. Results:A total of 101 subjects were positive in the baseline screening, with a positivity rate of 18.4%. Six cases of lung cancer were confirmed by pathology, with a detection rate of 0.92%(6/650). The detection rate of lung cancer in female non-smokers (1.59%) was higher than that in male smokers (1.04%) without significant difference (P=0.624). Detected in the follow-up scan were 19 cases of new nodule-positive subjects. The positive rate for new nodules was 3.5%(19/548). The difference between the three-and two-dimensional levels was statistically significant. Conclusion:The effect of LDCT screen-ing for early lung cancer is significant. The detection rate in female non-smokers was not significantly higher than that in male smok-ers. Thus, LDCT lung cancer screening is equally significant for both sexes. The computer-aided detection (CAD) volume measurement technique is better to evaluate the progress of nodules during the follow-up interval.