Objective To detecting the genetic etiology of a family with idiopathic pulmonary arterial hypertension and make gene diagnosis for the patient, so as to guide the targeted treatment and early intervention for the patient and her families. Methods The phenotype information of the family members was reviewed and their peripheral blood was collected for genomic DNA extraction. Exome sequencing was used to screen the mutations and proving the selected mutations by PCR-Sanger sequencing method. The pathogenicity of candidate mutation sites were searched through PubMed and related databases, and analyzed by protein function software. The judgement of pathogenicity was considered by clinical presentations and sequencing results of the patients based on Standards and guidelines for the interpretation of sequence variants revised by ACMG. Results At present, there was only one patient with pulmonary hypertension in this family, and other family members had no clinical manifestations of pulmonary hypertension. The female patient had BMPR2 gene c.1748dupA(p.Asn583Lysfs*6) heterozygous mutant. Her father and second son had BMPR2 gene c.1748dupA(p.Asn583Lysfs*6) heterozygous mutant, but none of the other members of the family had the mutation. Conclusions The heterozygous mutation of c.1748dupA (p.Asn583Lysfs*6) of BMPR2 gene is the genetic cause of the idiopathic pulmonary arterial hypertension patient, and the clinical significance of c.1748dupA(p.Asn583Lysfs*6) is pathogenic. The patient can be further diagnosed as pulmonary hypertension, primary 1 (PPH1) by gene diagnosis, and the mutant is novel and pathogenic for PPH1.
目的 探討醫生的專業化程度對直腸癌根治性切除術質量的影響。 方法 納入2007年7月－2009年12月收治且確診為直腸癌的手術患者共679例，分為專業組（470例）和非專業組（209例），收集患者年齡、體質量指數（BMI）、腫瘤TNM分期、手術持續時間、術中出血量、術后胃腸功能恢復時間、術后并發癥等圍手術期指標，進行相關統計學分析。 結果 兩組患者手術持續時間相當（P=0.322），但在專業組中患者術中出血量較非專業組少（P=0.008）。專業組患者術后拔除胃管時間（P=0.000）、拔除引流管時間（P=0.000）、首次進流質食物時間（P=0.002）、首次排便時間（P=0.007）和下床活動時間（P=0.001）均較非專業組提前，術后住院時間（P=0.152）與住院總時間（P=0.983）兩組差異無統計學意義，且專業組術后并發癥總發生率較低（P＜0.05）。 結論 醫生的專業化程度對直腸癌根治術患者圍手術期的管理有顯著影響，專業化程度高的直腸癌外科醫生可為患者帶來更好的手術效果。
Objective To study the earthquake emergency response capability and post-earthquake psychological state of students after the Wenchuan earthquake. And also, to investigate the level of earthquake-related knowledge so as to provide basic information for enhancing the emergency response capabilities among college students. Methods We selected 1% Sichuan University students by convenience sample method and conducted the survey in person with a self-designed questionnaire. Results were analyzed with Epidata 3.0 and SPSS13.0 software. Results We distributed 527 questionnaires and 517 (97.27%) valid questionnaires were retrieved. Most college students had a good grasp of earthquake knowledge: 65.4% to 97.7% of the responders gave the correct answers, but only 12.77% said they had ever received earthquake survival training. 15.2% suffered from fear after the earthquake, 59.4% became uneasy, and 25.4% remained calm. Gender, grade, or major were not the factors influencing the psychological state of college students after the earthquake (P= 0.246, 0.216, and 0.406, respectively). Also, earthquake survival training did not influence the psychological state of college students after the earthquake (P=0.090). Psychological intervention after the earthquake was identified as an important factor that affected the psychological state of students (P=0.002). Conclusion College students have a good grasp of the basic knowledge regarding earthquake, but relevant survival training is far from sufficient. Universities should strengthen earthquake survival training, enhance the post-earthquake emergency response capacity of students, and carry out post-disaster psychological intervention directly following an earthquake. There is no significant difference in the mental status among students of different genders, grades, or professional backgrounds.