1.The relevant research of psychological stress and career maturity of nursing postgraduates
Haijuan CUI ; Na ZHANG ; Huihui GONG ; Zheng SUN
Chinese Journal of Practical Nursing 2017;33(23):1811-1815
Objective To investigate and analyze the status of psychological stress and career maturity of nursing postgraduates to study the relationship between psychological stress and career maturity. Methods A total of 556 full-time postgraduates were chosen as the research objects, the psychological stress and career maturity questionnaires of the postgraduates were used for the self-assessment survey analysis of the status of psychological stress and career maturity of 6 different colleges and universitiespostgraduates. SPSS17.0 was conducted to sort and analyze data. Results The status of investigation: the total score of career maturity of the postgraduates was 66.50 ± 9.80, average score for 2.02±0.30, and professional self-knowledge score was significantly higher in 9 dimensions. The total score of psychological stress was 101.50±14.37, average score for 3.17±0.45, and professional development in 8 dimensions was under the most pressure.The analysis of influence factors: the factors of career maturity including , professional attitude, professional orientation and planning and scientific research consciousness (F=4.988, F=8.087, F=4.573, P < 0.05);the factors of psychological stress including native place, professional attitude, professional orientation and planning (t=6.020, F=3.518, F=7.913, P<0.05). There was a negative correlation relationship between psychological stress and career maturity of the postgraduates(r=-0.208, P < 0.05). Conclusions The level of career maturity is low, and there is moderate psychological pressure of the postgraduates. The results show that the level of career maturity can be negative predict by psychological stress. Under the guidance of professional competence to strengthen the overall quality of training can effectively relieve the negative impact of psychological stress on career maturity.
2.Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene.
Shandan CUI ; Haijuan LOU ; Haijun YIN ; Fangfang GENG ; Ning LI ; Lirong MA
Chinese Journal of Medical Genetics 2021;38(12):1211-1215
OBJECTIVE:
To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.
METHODS:
Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).
RESULTS:
WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.
CONCLUSION
The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics*
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Cerebellum/abnormalities*
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Eye Abnormalities
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Female
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Genotype
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Humans
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Kidney Diseases, Cystic
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Mutation
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Pedigree
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Phenotype
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Pregnancy
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Retina/abnormalities*