Objective To evaluate a score system(Association of Coloproctology of Great Britain and Ireland ACPGBI)in prediction of postoperative mortality from colorectal cancer patients in a Chinese hospital. Methods We analyzed retrospectively 904 patients with histologically confirmed colorectal cancer who had colorectal surgery from 1992 to 2005.There were 525 colonic cancer patients and 379 rectal cancer patients.We divided patients into several groups according to operative urgency(elective or emergency);surgeons(colorectal specialists or other surgeons);cancer location(colon or rectal).According to ACPGBI score we got the prediction.This prediction was compared with the actual mortality;Chi-square test,receiver operator characteristic curve(ROC),Hosmer-Lemeshow goodness-of-fit test were used.Results Observed overall mortality within 30 days after surgery was 1.0%(9/904),and the predicted mortality was 8.3%(75/904).In all the subgroups the predicted momdity wag higher than observed mortality.We found that the actual mortality was higher in an individual subgroup in which the predicted mortality was higher. Conclusions For colorectal cancer patients undergoing a surgery the predicted mortality of ACPGBI score system was higher than the actual mortality in a Chinese hospital.

Objective:To explore the molecular pathogenesis of a family with hereditary factor Ⅴ (FⅤ) deficiency.Methods:All the exons, flanking sequences, 5′ and 3′ untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing. The CAT measurement was used to detect the amount of thrombin produced. The ClustalX software was used to analyze the conservation of mutation sites. The online bioinformatics software, Mutation Taster, PolyPhen-2, PROVEAN, LRT, and SIFT were applied to predict the effects of mutation sites on protein function. The Swiss-PdbViewer software was used to analyze the changes in the protein model and intermolecular force before and after amino acid variation.Results:The proband had a heterozygous missense mutation c.1258G>T (p.Gly392Cys) in exon 8 of the F5, and a heterozygous deletion mutation c.4797delG (p.Glu1572Lys fsX19) in exon 14, which results in a frameshift and produces a truncated protein. Her grandfather and father had p.Gly392Cys heterozygous variation, whereas her maternal grandmother, mother, little aunt, and cousin all had p.Glu1572LysfsX19 heterozygous variation. The ratio of proband's thrombin generation delay to peak time was significantly increased. Conservation analysis results showed that p.Gly392 was located in a conserved region among the 10 homologous species. Five online bioinformatics software predicted that p.Gly392Cys was pathogenic, and Mutation Taster also predicted p.Glu1572Lys fsX19 as a pathogenic variant. Protein model analysis showed that the replacement of Gly392 by Cys392 can lead to the extension of the original hydrogen bond and the formation of a new steric hindrance, which affected the stability of the protein structure.Conclusion:The c.1258G>T heterozygous missense mutation in exon 8 and the c.4797delG heterozygous deletion mutation in exon 14 of the F5 may be responsible for the decrease of FⅤ levels in this family.

Objective:To investigate the prevalence of metabolic syndrome(MS) among adult residents with different characteristics and the relationship between serum uric acid(SUA) level and MS using the data of Chinese Adult Chronic Diseases and Nutrition Surveillance(2018) program in Anhui.Methods:Multi-stage stratified cluster random sampling was used to select participants aged 18 and over for questionnaires, physical measurements, and laboratory tests. The complex weighted method was used to estimate the prevalence of MS among residents with different characteristics. Logistic regression model based on complex sampling data was used to analyze the relationship between SUA and MS. Receiver operating characteristic(ROC) curve was used to evaluate the reliability of SUA in diagnosing MS and determine the optimal cutoff point.Results:A total of 7 182 participants were included and the prevalence of MS among adult residents was 29.46%. The prevalence of MS was higher in females(33.76%) than that in males(25.28%), and the difference was statistically significant( P<0.05). After adjusting for other factors, for every 10 μmol/L increase in SUA, the risk of MS increased by 4% in males( OR=1.040, 95% CI 1.019-1.061) and 7% in females( OR=1.070, 95% CI 1.059-1.082). The area under the curve(AUC) for SUA in diagnosing MS was 0.816(95% CI 0.806-0.826), with a sensitivity of 0.761 and specificity of 0.727. The optimal cutoff point for SUA was 450 μmol/L. Conclusion:The prevalence of MS among adult residents in Anhui Province is 29.46%. SUA is a risk factor for MS, and increasing SUA level indicated a higher risk of MS. The optimal cutoff value of SUA may be helpful in diagnosing MS.

ObjectiveTo investigate the deafness genetic mutation spectrum in nonsyndromic hearing impairment (NSHI) associated with enlarged vestibular aqueducts (EVA). MethodsFrom October, 2015 to August, 2016, 85 patients with NSHI from Hubei Yichang Special Education School were examined with temporal bone CT, and 20 deafness-related gene mutations in GJB2, GJB3, SLC26A4 and mtDNA 12S rRNA were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ResultsA total of 31 patients were found EVA with temporal bone CT. Compared with non-EVA patients, the proportion of deafness-related gene mutations was more in patients with EVA (χ² = 11.160, P = 0.001), especially for c.919-2A>G mutation of SLC26A4 (χ² = 23.870, P < 0.001). ConclusionThe deafness gene mutation spectrum is different in NSHI patients with or without EVA. It is needed to optimize genetic testing scheme for deafness for early diagnosis and intervention of NSHI associated with EVA.