[A clinical study of mental stress-induced myocardial ischemia in patients with stable coronary artery disease and depression/anxiety].

Objectives: Exploring the association between depression/anxiety and mental stress-induced myocardial ischemia (MSIMI) in patients with stable coronary artery disease (CAD). Methods: A total of 178 subjects was enrolled according to the inclusion and exclusion criterion with 88 men and 90 women at age of (54±12)years. The subjects were divided into four groups including CAD with depression/anxiety, CAD without depression/anxiety, depression/anxiety without CAD, and control group based on the state of coronary artery, the scores of Patient Health Questionnaire 9-item (PHQ-9) and Generalized Anxiety Disorder 7-item (GAD-7) . MSIMI was diagnosed by echocardiography. Data were analyzed by SPSS19.0. Results: The incidence of MSIMI in all CAD patients was 17.24%. Within each group, 35.00% patients were MSIMI in CAD with depression/anxiety, 2.13% were in CAD without depression/anxiety, 14.29% were in depression/anxiety without CAD, and 2.38% were in control group. The risks of MSIMI in depression/anxiety without CAD and with CAD groups were 6.83 (P>0.05) and 22.08 times (P<0.05) higher than that in control group, respectively. Logistic regression showed that a 1-point increment in the GAD-7 score, but not PHQ-9 score [OR=0.95, 95% CI (0.77-1.17), P=0.63], was associated with 1.22-fold increase in the likehood of MSIMI [95% CI (1.07-1.38), P=0.00]. Conclusions: The MSIMI rate is much higher in patients with CAD comorbid depression/anxiety compared with CAD without depression/anxiety. Anxiety, but not depression, is an independent risk factor of MSIMI in CAD patients.

Analysis of differentially expressed genes in various stages of Duchenne muscular dystrophy by using a network view.

Duchenne muscular dystrophy (DMD), which is caused by mutations in the X-linked dystrophin gene, is a severe and progressive neuromuscular disease with no available cure. By integrating 2 microarray datasets from the Gene Expression Omnibus, we identified differentially expressed genes in 2 stages of DMD and systematically explored their potential disease-related mechanisms using a network view. Twenty differentially expressed genes were detected in various stages of DMD. According to the network with dystrophin as its center, none of the 20 proteins interacts with dystrophin directly. IQ motif-containing GTPase-activating protein 1 was found in the 2nd-level neighbors with a degree of 21. Microtubule-associated protein tau, membrane metallo-endopeptidase, interleukin 13 receptor alpha 1, and multiple epidermal growth factor-like domains 6 were found in the 3rd-level neighbors. These identifications require further investigation, as this report is the first of possible associations between DMD and these proteins. Analysis of differentially expressed genes through this network view may provide important information for further exploration of underlying mechanisms of DMD.

[Spectrum of mutations in benign familial neonatal-infantile epilepsy].

Objective: To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protoco1. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing, candidate gene mutations were further screened by next-generation sequencing for epilepsy. Results: A total of 7 families were collected. Of the 30 affected members, 15 were male and 15 were female. The age of epilepsy onset was from 2 days to 6 months. Genetic testing led to the identification of gene mutations in all families. One family had the PRRT2 hotspot mutation (c.649dupC). Three families had missense SCN2A mutations (c.2674G>A/p.V892I, c.2872A>G/p.M958V, and c.2627A>G/p.N876S) . Both c.2872A>G/p.M958V and c.2627A>G/p.N876S were novel SCN2A mutations. Three families had KCNQ2 mutations. Two of them had missense mutations (c.958G>A/p.V320I and c.998G>A/p.R333Q) . The KCNQ2 mutation c.958G>A/p.V320I was novel. One family had a gene deletion of KCNQ2, which also extended to the adjacent gene, CHRNA4; and the deletion involved all the exons of KCNQ2 and CHRNA4. Conclusions: Mutations in KCNQ2, SCN2A, and PRRT2 are genetic causes of BFNIE in Chinese families. The detection rate for gene mutations is high in BFNIE families. KCNQ2 and SCN2A mutations are common in BFNIE families. SCN2A mutations (c.2872A>G/p.M958V and c.2627A>G/p.N876S) and KCNQ2 mutation (c.958G>A/p.V320I) are novel mutations.