Objective To understand the relationship between GATA -4,-5,-6 gene mutations and con-genital heart disease(CHD),and to provide grounds for early prevention and genetic counseling of children with CHD. Methods GATA -4,-5,-6 coding regions exons and the flanking intron sequences in 1 98 CHD patients were screened,including 66 cases of the ventricular septal defects,84 cases of the atrial septal defects,and 48 cases of the nonsyndromic conotruncal heart defects patients.A total of 300 healthy subjects were selected as controls.The acquired sequences were aligned with which those publicized in GenBank by the aid of program BLAST.All exons and bilateral partial intron -exon boundaries of GATA -4,-5,-6 genes were amplified by the polymerase chain reaction (PCR). The PCR products were purified and directly sequenced by automatic DNA sequence equipment.The acquired GATA -4,-5,-6 gene sequences were compared with GenBank standard gene sequences with the aid of program BLAST. Results A heterozygous missense mutation in the GATA -4 gene was identified in a ventricular septal defect patient and a persistent truncus arteriosus patient.The mutation was located in c.799G >A(p.V267M)in exon 4 of GATA -4. Multiple aligenment of GATA -4 proteins across species demonstrated that altered amino acid was highly conserved. Transcription factor GATA -5,-6 screening showed no mutations in children with CHD in this study.Conclusions Transcription factor GATA -4 gene mutation may be associated with the occurrence of CHD.Transcription factor GATA -4 gene may be susceptible gene in human CHD.

Abstract Non suicide self injury is highly common in adolescents, which is seriously threatening their physical and mental health. It is an important predictor of future suicide, and has become a focus of global public health concern. At present, the research on adolescent non suicidal self injury is still in its infancy, and its formation process is complex. The pathogenesis is not completely clear, and the relevant treatment studies are relatively few. The paper expounds the pathogenesis and treatment of the nonsuicidal adolescent NSSI from the perspectives of genetics, neurobiology, neuroimage and social psychology, aiming to provide a theoretical basis for adolescent NSSI prevention and intervention.

Objective: To explore the molecular and genetic mechanism of transcription factor GATA-6 in nonsyndromic conotruncal defect (CTD) in order to provide evidence for early prevention and inheritance consultation of CTD. Methods: A total of 32 cases of patients with nonsyndromic CTD and 100 healthy individuals were enrolled in the study.A total of 7 exons and bilateral partial intron-exon boundaries of GATA-6 were amplified by means of polymerase chain reaction (PCR). The PCR products were purified and directly sequenced by using an ABI Genetic Analyzer 3100 Automatic DNA sequence equipment.The acquired GATA-6 gene sequence was compared with standard gene sequence published in National Center for Biotechnology Information database, as well as the healthy control group to observe the GATA-6 gene mutations.The mutations were introduced into pcDNA3.1(+ ) by site-directed mutagenesis PCR on the basis of pcDNA3.1(+ )-GATA-6 in order to generate the GATA6-G245R mutant constructs.Wild type GATA-6, GATA-6-G245R and atrial natriuretic factor-luciferase(ANF-luciferase) were cotransfected into HEK 293T cells in vitro, and the CMV-LacZ were cotransfected as internal reference.Luciferase and galactosidase activity were measured by using luminometer 24 h after transfection and detected in the downstream ANF-luciferase reporter gene. Results: A heterozygous missense mutation in the GATA-6 gene was identified in a patient with double outlets of the right ventricle.The mutation was located in Gly245Arg(G245R) in exon 2 of GATA-6.The mutation of pcDNA3.1(+ )-GATA-6 expression vectors were successfully constructed.Through the detection of luciferase reporter gene activity, it was found that GATA-6-G245R and wild-type GATA-6 decreased by 41.3%, and the comparison between them was statistically significant (P<0.001). Conclusions Transcription factor GATA-6 gene mutation is associated with the occurrence of nonsyndromic CTD.Transcription factor GATA-6 gene may be susceptible gene in human nonsyndromic CTD.

Objective:To synthesize 177Lu-prostate-specific membrane antigen (PSMA)-617 with domestic 177Lu (made in China), and explore its optimal labeling condition, biodistribution, stability, and safety. Methods:177Lu-PSMA-617 was prepared with domestic 177Lu by a manual method. The optimal labeling condition, radiochemical purity, stability ( in vivo and in vitro), lipid-water partition coefficient, and plasma protein binding rate were determined. The uptake rate of 177Lu-PSMA-617 was evaluated by using 22RV1 cells. Biodistribution and SPECT/CT imaging were performed on normal mice with imported 177Lu-PSMA-617 as control group. The blood routine test was performed to evaluate the safety. Results:The best labeling result of domestic 177Lu-PSMA-617 can be obtained under the following conditions: pH=4.5, 100 ℃ for 30 min. And the radiochemical purity was ≥99%. The product was stable in vivo and in vitro, with the radiochemical purity >95% in 72 h. The plasma protein binding rate was (35.3±5.3)%, the lipid-water partition coefficient was -2.27±0.06, and the specific uptake rate of domestic 177Lu-PSMA-617 by 22RV1 cells reached the highest in 1 h ((7.58±0.84)%), which was slightly lower than the imported 177Lu-PSMA-617 ((7.86±0.96)%), but there was no significant difference between them ( t=-0.439, P>0.05). The distribution and SPECT/CT imaging of normal mice showed that domestic and imported 177Lu-PSMA-617 in blood were cleared quite fast, and both of them were excreted mainly through the kidneys. No obvious adverse reactions were found in the toxicity test of domestic and imported 177Lu-PSMA-617. There was no obvious abnormality in blood routine and liver and kidney metabolism. Conclusion:The domestic 177Lu-PSMA-617 has many advantages, such as qualified quality control, good biological properties and safety, which support its potential application value in diagnosis of prostatic neoplasms.

ObjectiveTo understand the status of stigma and subjective well-being of patients with mental disorders and co-resident family members， to analyze the correlation between them， and to compare the impact of stigma upon the subjective well-being of patients and family members of the same household. MethodsPatients with mental disorders （n=154） and their families （n=154） who visited the outpatient department of a tertiary psychiatric hospital in Chengdu from October to November 2019 were selected， and four instruments were used for collecting the data， including self-designed demographic information questionnaire， self-designed disease-related information questionnaire， brief version of Internalized Stigma of Mental Illness Scale （ISMI-10） and Index of Well-Being Scale （IWB）. ResultsA total of 118 （76.62%） patients with mental disorders and 151 （98.05%） family members experienced stigma. The total score and each factors score in ISMI-10 of family members were higher than those of patients （P<0.01）， and the total score and each dimension score in IWB were lower than those of patients （P<0.01）. Pearson correlation analysis showed that ISMI-10 total score of patients and family members was negatively correlated with IWB total score （r=-0.600，-0.202， P<0.05 or 0.01）. After controlling demographic and disease-related variables， multiple linear regression analysis showed that the regression model of mental disorder patients achieved good fit effect （adjusted R²=0.457）， with statistical significance （F=26.746， P<0.01）， while the regression model of co-living family members was lack of fit （adjusted R²=0.035）. After controlling for family demographic variables， the model was at the statistical level （F=3.769， P<0.01）. ConclusionMental disorder patients have low illness stigma and high subjective well-being， whereas the opposite is true for family members. Moreover， there is a negative relationship between stigma and subjective well-being for both patients and family members， stigma is a significant factor affecting subjective well-being for people with mental disorders.