Congenital heart disease (CHD) is the most common birth defects in humans. The genetic causes for CHD remain largely unknown. T-box transcription factor 1 (TBX1), a dosage-sensitive regulator, plays a critical role in the heart development. Mutations in the coding regions of TBX1 gene have been associated to 22q11 deletion syndrome with cardiac defects and isolated CHD cases, including ventricular septal defect (VSD). To date, TBX1 gene promoter region has not been analyzed and reported in CHD patients. We hypothesized that the sequence variants within TBX1 gene promoter region may change TBX1 levels and mediate CHD development. In this study, the promoter regions of TBX1 gene were genetically and functionally analyzed in 280 VSD patients and 267 healthy controls. Two novel heterozygous variants, g.4353C>T and g.4510A>C, were found in two VSD patients, but in none of controls. The single-nucleotide polymorphism-rs41260844, g.4199T>C, was found more frequent in VSD patients than controls (P < 0.01). Functional analyses revealed that these sequence variants significantly enhanced transcriptional activities of TBX1 gene promoter. Therefore, the sequence variants within TBX1 gene promoter may contribute to the VSD etiology by altering the expression levels of TBX1 gene. Pharmaceutical or genetic manipulation of TBX1 gene expression may provide a novel personalized therapy to prevent and treat late cardiac complications for the adult CHD patients carrying these variants.

BackgroundIn China, there is no unified standard for the responsibilities and authority of nurse anesthetists, resulting in different professional expectations from anesthesiologists and nursing managers, which may result in high levels of role stress and burnout in nurse anesthetists. Additional factors such as high occupational risk and heavy work may also contribute to role stress and burnout.MethodsIn this multicenter cross‐sectional study, an online questionnaire survey was conducted among 198 nurses from six tertiary hospitals in Shandong Province. The t test, analysis of variance, linear regression, and logistic regression were used to analyze the risk factors for role stress and professional burnout.ResultsThe scores of role conflict and role ambiguity in role stress were 30.61 ± 9.53 and 31.89 ± 9.56, respectively; satisfaction with income and the working environment, the hospital's attention, years of experience as a nurse, clarity concerning the nurse anesthetist's occupational scope, and attitude to career prospects were independent risk factors for role stress. The burnout data were non‐normally distributed and were expressed as medians and quartiles. The scores of emotional exhaustion, depersonalization, and personal achievement in professional burnout were 30 (26–34), 11 (8–14), and 23 (20–26) respectively. The number of working hours per week, attitude to career prospects, satisfaction with the working environment and income, physical health, gender, and education were independent risk factors for burnout.ConclusionsChinese nurse anesthetists were found to be in danger of high role stress and professional burnout, a situation requiring the attention of managers.

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