OBJECTIVETo detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism.

METHODSThe coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Transcripts of the EXT1 gene in the proband were analyzed by TA clone-sequencing, with its abundance compared with that of healthy controls.

RESULTSDNA sequencing has identified in the proband a novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene. The same mutation was not found in the healthy controls. Bioinformatics analysis indicated that the mutation is highly conserved and can lead to skipping of exon 3 or aberrant splicing. TA clone-sequencing indicated that the numbers of transcripts with skipping of exon 3 has significantly increased in the proband (< 0.05) compared with the controls.

CONCLUSIONThe c.1164+1G to A mutation has resulted in skipping of exon 3 in a proportion of EXT1 gene transcripts. As the result, the number of transcripts with tumor suppressing function is relatively reduced and has ultimately led to the tumors.

Adult ; Base Sequence ; Child ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; N-Acetylglucosaminyltransferases ; genetics ; Point Mutation ; RNA Splice Sites ; RNA Splicing

Objective To investigate the correlations of the expressions of microRNA-506(miR-506)and microRNA-874(miR-874)in serum of patients with gastric cancer with Helicobacter pylori(Hp)infection and severity of disease.Methods A total of 78 patients with gastric cancer admitted to our hospital from May 2020 to May 2022 were selected in the study,and the patients were divided into in-fection group(43 cases)and non-infection group(35 cases)according to Hp infection.Pearson method was applied to analyze the correlation between the expression levels of miR-506 and miR-874 in serum of patients;Logistic regression was used to analyze the related factors affecting the severity of the disease,and receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficacy of miR-506 and miR-874 in Hp infection and severity of the disease.Receiver operating char-acteristic(ROC)curve was used to analyze the diagnostic efficacy of miR-506 and miR-874 in Hp infection and disease severity.Results The serum miR-506 level in the infection group was higher than that in the non-infection group,and the expression level of miR-874 was lower than that in the non-infection group(1.22±0.27 versus 1.50±0.51,P＜0.05);the serum levels of miR-506 and gastrin-17(G-17)in patients of stage Ⅲ to Ⅳ were higher than those in patients of stage Ⅰ to Ⅱ,and the expression levels of miR-874 and pepsin Ⅰ(PG Ⅰ)were lower than those in patients of stage Ⅰ to Ⅱ(P＜0.05).The expression levels of miR-506 and miR-874 in serum were negatively correlated(r=-0.886,P＜0.05).There were no correlations of age,sex,tumor diameter and differentiation degree with the severity of disease(P＞0.05).The lymph node metastasis rate in pa-tients with stage Ⅲ to Ⅳ was higher than that in patients with stage Ⅰ to Ⅱ(P＜0.05).Logistic regres-sion analysis showed that miR-506 and miR-874 were the influencing factors of severity of the disease(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum miR-506,miR-874 and their combined detection for diagnosis of Hp infection were 0.741,0.648 and 0.823,respectively.The combined detection was better than that of serum miR-506 and miR-874 alone(P=0.007,0.001).The AUC of serum miR-506,miR-874 and their combined detection for diagnosis of disease severity were 0.697,0.797 and 0.836,respectively.The predictive efficiency of the combined detection of the two methods was better than that of serum miR-506 and miR-874 sepa-rately(P=0.045,0.046).Conclusion The expression levels of miR-506 and miR-874 in serum are related to the occurrence and severity of Hp infection.The combined detection of the combined detection has certain auxiliary diagnostic value for Hp infection and severity of the disease.

Objective To investigate the correlations of the expressions of microRNA-506(miR-506)and microRNA-874(miR-874)in serum of patients with gastric cancer with Helicobacter pylori(Hp)infection and severity of disease.Methods A total of 78 patients with gastric cancer admitted to our hospital from May 2020 to May 2022 were selected in the study,and the patients were divided into in-fection group(43 cases)and non-infection group(35 cases)according to Hp infection.Pearson method was applied to analyze the correlation between the expression levels of miR-506 and miR-874 in serum of patients;Logistic regression was used to analyze the related factors affecting the severity of the disease,and receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficacy of miR-506 and miR-874 in Hp infection and severity of the disease.Receiver operating char-acteristic(ROC)curve was used to analyze the diagnostic efficacy of miR-506 and miR-874 in Hp infection and disease severity.Results The serum miR-506 level in the infection group was higher than that in the non-infection group,and the expression level of miR-874 was lower than that in the non-infection group(1.22±0.27 versus 1.50±0.51,P＜0.05);the serum levels of miR-506 and gastrin-17(G-17)in patients of stage Ⅲ to Ⅳ were higher than those in patients of stage Ⅰ to Ⅱ,and the expression levels of miR-874 and pepsin Ⅰ(PG Ⅰ)were lower than those in patients of stage Ⅰ to Ⅱ(P＜0.05).The expression levels of miR-506 and miR-874 in serum were negatively correlated(r=-0.886,P＜0.05).There were no correlations of age,sex,tumor diameter and differentiation degree with the severity of disease(P＞0.05).The lymph node metastasis rate in pa-tients with stage Ⅲ to Ⅳ was higher than that in patients with stage Ⅰ to Ⅱ(P＜0.05).Logistic regres-sion analysis showed that miR-506 and miR-874 were the influencing factors of severity of the disease(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum miR-506,miR-874 and their combined detection for diagnosis of Hp infection were 0.741,0.648 and 0.823,respectively.The combined detection was better than that of serum miR-506 and miR-874 alone(P=0.007,0.001).The AUC of serum miR-506,miR-874 and their combined detection for diagnosis of disease severity were 0.697,0.797 and 0.836,respectively.The predictive efficiency of the combined detection of the two methods was better than that of serum miR-506 and miR-874 sepa-rately(P=0.045,0.046).Conclusion The expression levels of miR-506 and miR-874 in serum are related to the occurrence and severity of Hp infection.The combined detection of the combined detection has certain auxiliary diagnostic value for Hp infection and severity of the disease.

Ideal bowel preparation is fundamental for a successful colonoscopy.High-quality bowel preparation mainly includes diet management and bowel cleansing,and should be both effective and well tolerated.Among them,diet management is the key point of bowel preparation and plays a non-negligible role.This article reviewed the various dietary management schemes used in the clinical practice of bowel preparation.