Early / 中南大学学报(医学版)

Alzheimer's disease (AD) is the most common senile neurodegenerative disease characterized by progressive cognitive dysfunction, psychological and behavioral abnormalities, and impaired ability of activities of daily living. A family with a total of 3 patients were admitted to the Department of Neurology of Xiangya Hospital, Central South University in 2018. The proband showed memory decline as the presenting symptoms, and subsequently showed psychological and behavioral abnormalities, personality changes, seizures, and motor retardation. Definite diagnosis of early-onset familial AD (EOFAD) with missense mutation of presenilin 2 (PSEN2) (c.715A>G p.M239V) was established by whole exome sequencing (WES) technology. We reported the mutation in Chinese Han population for the first time, which expanded the mutation spectrum ofPSEN2 gene and aid to enrich the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations. Patients with early onset age and complex clinical manifestations of AD can be diagnosed with the help of genetic testing to avoid misdiagnosis.

Eliciting thinking from the competition in basic medical design of experimentation for cultivating excellent doctors / 中华医学教育探索杂志

The purpose of the National Competition in Basic Medicine Innovation Forum & Ex-perimental Design in colleges is to boost Excellent-doctor Education Training Plan, cultivating students' scientific research ability and other comprehensive capacity. In practice, the originality and the scientific nature of the selected topic were emphasized through the provision of scientific research funding. The teachers changed their traditional instructional concept and teaching models. They guided the students to select the scientific subjects and took various measures to change students ' learning mode, resulting in gradually pro-moting the students' scientific research level and comprehensive ability. The results showed that these novel strategies are feasible and effective, which may provide a new way for improvement of the excellent doctor program.