Objective:To analyze common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy (ARVC) in Yunnan unexplained sudden death (hereinafter referred to as Yunnan sudden death) cases, and explore the etiological relationship between Yunnan sudden death and ARVC.Methods:Four typical Yunnan sudden death affected counties (cities) were selected as investigation sites. Cryopreserved autopsy cardiac cavity blood samples were collected from Yunnan sudden death cases ( n = 3), and peripheral venous blood samples were harvested from their relatives (first, second, third and immediate degree of kinship, n = 67) and control population ( n = 49). The DNA of blood samples was extracted for amplification and sequencing of 97 exons of 5 common ARVC desmosomal protein [desmoplakin (DSP), desmocollin-2 (DSC2), desmoglein-2 (DSG2), plakophilin-2 (PKP2) and junction plakoglobin (JUP)] genes, and genetic lineage of Yunnan sudden death cases was investigated. Results:A total of 17 gene mutation sites were discovered in Yunnan sudden death cases and their relatives, with 6, 5, 4, 1 and 1 in the DSP, DSC2, DSG2, PKP2 and JUP genes, which were not found in the control population. Among them, 9 were newly discovered mutation sites and 8 were reported mutation sites. The DSP gene exon 24 c.8472 G>C, a pure contractual sense mutation, was common in the relatives of 4 cases in the same family surveyed; and one immediate relative carried a deletion mutation at c.2368 - 2370 of exon 15 of DSC2 gene.Conclusion:Yunnan sudden death cases and their relatives carry mutations in the ARVC desmosomal protein DSP, DSC2, DSG2, PKP2, and JUP genes, and the onset of some Yunnan sudden death may be associated with mutations in the ARVC desmosomal protein genes.

ObjectiveTo assess the specificity of P50 auditory-evoked potential in schizophrenic patients with violent and aggressive behaviors， so as to provide objective biological markers for predicting violent behaviors of schizophrenic patients. MethodsA total of135 schizophrenic patients who met the diagnostic criteria of the International Classification of Diseases， tenth edition （ICD-10） were divided into aggressive group （n=70） and non-aggressive group （n=65） according to the assessment results of the Modified Overt Aggression Scale （MOAS）， meantime， another 60 healthy individuals matched for age and gender were set as healthy group. Then the P50 auditory-evoked potentials of all selected individuals were measured using EP/EMG system （MEB-9200， Nihon Kohden， Japan）. ResultsAmp S2 of the aggressive group was significantly higher than those of the non-aggressive group and healthy control group， with statistical differences ［（9.86±6.04）μV vs. （7.06±3.88）μV， P=0.004； （9.86±6.04）μV vs. （7.82±3.87）μV， P=0.031］. The proportion of S2/S1 ratio ≥0.5 was 72.88%， 43.86% and 30.00% in aggressive group， non-aggressive group and healthy group， which was the highest in aggressive group， with statistical differences （P<0.01）. The amplitude difference of P50 （S1-S2） of the aggressive group was lower than those of the non-aggressive group and the healthy control group， the differences were of statistical significance ［（4.35±9.39）μV vs.（9.89±8.48）μV， P=0.001； （4.35±9.39）μV vs.（13.42±9.81）μV， P<0.01］. ConclusionThe violent and aggressive behaviors in schizophrenic patients may be related to the sensory gating deficit.