Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for potential mutations of LKB1 gene in Chinese familial Peutz-Jeghers syndrome (PJS) patients and analyze their clinical manifestations.</p><p><b>METHODS</b>Eleven PJS families were collected and genomic DNA of peripheral blood was extracted. Typically mucosal pigmentation and hamartomatous polyps were present in all 11 probands. Mutation screening of the probands were carried out by PCR and direct sequencing. Two hundred and fifty healthy adults were enrolled as normal controls, for whom genomic DNA of peripheral blood was also extracted. PCR-denaturing high performance liquid chromatography was carried out to verify the mutation identified in the patients.</p><p><b>RESULTS</b>Nine germline mutations were identified in eight PJS patients, which included 7 point mutations, 1 deletion and 1 insertion. Among these, 4 were considered to be pathogenic, of which 2 were de novel, 4 were considered to be polymorphism, and 1 was uncertain.</p><p><b>CONCLUSION</b>LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients. Most mutations are point mutations.</p>

Survey of influencing factors on smoking and cessation compliance in patients after coronary artery bypass graft surgery / 中华心血管病杂志

<p><b>OBJECTIVE</b>To analyze the underlying factors related to smoking and cessation compliance in patients following coronary artery bypass graft surgery (CABG).</p><p><b>METHODS</b>From October, 2008 to January, 2009, a total of 160 CABG patients received questionnaires concerning smoking and smoking cessation compliance in Peking university people's hospital, 153 patients completed the questionnaires and were divided into non-smoking (72 patients) and smoking group (81 patients).</p><p><b>RESULTS</b>Cognition was better in non-smokers than smokers on smoking-related health hazards (100% vs. 91.4%, P = 0.011) and on the relationship between smoking and chronic obstructive pulmonary diseases (80.6% vs. 60.5%, P = 0.007) while cognition was better in smokers than non-smokers on the relationship between smoking and ischemic heart disease (61.7% vs. 40.3%, P = 0.008). Compared with non-smoker, smokers acquired significantly more knowledge on smoking and smoking cessation from friends and colleagues (22.2% vs.8.3%, P = 0.018) and from medical professionals (55.6% vs. 26.4%, P = 0.000). In the smoking group, 68 patients quit smoking (84.0%), while the remaining 13 patients failed to quit smoking (16.0%) post CABG. The smoking cessation patients were superior to the smoker patients on smoking cessation compliance (82.4% vs. 38.5%, P = 0.001) and support from family members (94.1% vs. 61.5%, P = 0.003). The nicotine dependence scores of current smokers significantly declined after CABG (preoperative 3.77 ± 2.31 vs. postoperative 2.46 ± 2.30, P = 0.008).</p><p><b>CONCLUSIONS</b>Cognition on the relationship between smoking and coronary heart disease as well as other diseases should be improved in patients underwent CABG. Medical staff and family members play an equal important role on improving the smoking cessation rate for patients post CABG.</p>