Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia / 中华医学遗传学杂志

OBJECTIVE@#To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH).@*METHODS@#All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles.@*RESULTS@#Direct sequencing of PCR products revealed 8 LDLR variants in 7 patients, which included c.259T>G, c.513delC, c.530C>T, c.682G>T, c.763C>T, c.1187-10G>A, c.1948delG, and c.1730G>A, among which c.1948delG was novel. Four patients have carried heterozygous mutations, two carried homozygous mutations, and one carried compound heterozygous mutations. The patients with biallelic mutations presented with a more severe phenotype compared those carrying heterozygous mutations.@*CONCLUSION@#LDLR mutations were identified in 7 out of 9 patients with FH. Among the 8 identified LDLR mutations, c.1948delG was firstly reported. Above findings have expanded the mutation spectrum of LDLR gene.

Mental Health Status of Old People in Endowment Institutions and the Influencing Factors in Shandong Province / 中国医学伦理学

Objective:To study the mental health of old people who live in endowment institutions in Shandong Province and its influencing factors. Methods: A sample of 2200 old people over 60 years old was selected with the stratified random sampling method. They were investigated using the self-designed questionnaires, symptom checklist (SCL-90), and Social Support Rating Scale. A total of 2013 questionnaires were recovered effectively (91. 5%), and 271 questionnaires were analyzed in this study. Results:41. 7% of old people in endowment insti-tutions in Shandong Province is positive in SCL -90 . Multivariate analysis showed that self -care ability ( P =0 . 045 ) and type of chronic disease ( P=0 . 025 ) associated with mental health problems of old people in Shandong Province. Conclusion:The mental health status of old people in endowment institutions in Shandong Province was not optimistic and its influencing factors included self-care ability and the type of chronic disease. It should take measures to promote successful aging in Shandong Province.

Analysis on Conflict of Contemporary College Students'Network Ethics / 中国医学伦理学

Objective:To investigate the current situation of network ethics among the college students , to pro-vide evidence for cultivating correct network ethics .Methods:A survey was conducted in 1200 students with a self-designed questionnaire .Results:College students in the network ethics exist conflicts .They eager to trust but face a crisis of confidence , tool enhancements but responsibility fall , network security but network open , virtual but reality.Conclusion:The government should strengthen the network legislation and network credit system , should increase the development of network security technology so as to build networks ethical norms .Colleges should pay attention to culture the social responsibility , and promote the quality level of network ethics among the college students .