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.
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.
