Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy / 中华医学遗传学杂志

OBJECTIVE@#To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing.@*METHODS@#Peripheral blood samples from the two patients and their parents were collected and genomic DNAs were extracted to conduct targeted next generation sequencing or whole exome sequencing. Bioinformation analysis was performed to identify the pathogenic variants in genes associated with cardiomyopathy, which were further validated by Sanger sequencing.@*RESULTS@#By high throughput sequencing, we detected a de novo heterozygous variant c.549+1G>T in TNNI3 gene in patient 1. The variant has not been reported previously and was predicted to be pathogenic in line with American College of Medical Genetics and Genomics (ACMG) guidelines (PVS1+PS2+PM2). Another heterozygous variant c.433C>T (p.Arg145Trp) in TNNI3 gene was identified in patient 2 and his father. The variant had been reported as pathogenic variant in Clinvar and HGMD databases; based on ACMG guidelines, the variant was predicted to be likely pathogenic (PS3+PM1+PP3).@*CONCLUSION@#TNNI3 variants may be the causative gene responsible for restrictive cardiomyopathy in the two patients. High throughput sequencing results provide bases for the diagnosis of restrictive cardiomyopathy.

Research in correlation of hardiness personality and professional commitment among nursing students / 中国实用护理杂志

Objective To explore the correlation between nursing students' hardiness personality and professional commitment.Methods 1 115 undergraduate nursing students from 3 medical universities in Guangzhou were investigated with the scales of hardiness personality and nursing professional commitment.Results The scores of hardiness personality and professional commitment were (2.55 ± 0.44) and (2.70 ± 0.43),respectively,and both of them were at the middle level.Correlation analysis revealed that hardiness personality was positively related to professional commitment (P＜0.01),and the challenge dimension of hardiness personality had positive predictive effect on professional commitment.Conclusions Nursing educators should take measures to improve students' hardiness personality and professional commitment.It would help maintain the stability of the whole nursing team.

A qualitative study of the experience of self-perceived burden in patients with chronic obstructive pulmonary disease / 中国实用护理杂志

Objective To explore the experience of self-perceived burden in patients with chronic obstructive pulmonary disease (COPD) and provide evidence for clinical nursing interventions.Methods Indepth interviews were conducted among 17 patients with COPD using phenomenological method of qualitative research.Data were analyzed with the Colaizzi's method.Results 3 themes was identified:self-accusation and guilt,loss of dignity and powerlessness,concern and insecurity.Conclusions Nurses should take the experience of SPB in patients with COPD seriously and take the influence of SPB into account during the process of nursing interventions and evaluation.