1.Construction of the postoperative "NANDA-I-NOC-NIC" link system for liver transplant recipients
Linqiu HAN ; Zhixian FENG ; Pengxia WAN ; Jianfang LU ; Yaxian JIN ; Xiaoxiao ZHU ; Mingyan SHEN
Chinese Journal of Modern Nursing 2024;30(15):2033-2041
Objective:To construct a postoperative nursing plan for liver transplant recipients using the NANDA international, nursing outcomes classification, nursing intervention classification (NANDA-I-NOC-NIC) link (referred to as NNN-link) as the theoretical framework, so as to optimize the nursing process after liver transplantation and improve the quality of nursing.Methods:This study retrospectively collected nursing diagnoses with a postoperative usage rate of over 50% from 300 liver transplant recipients at Shulan (Hangzhou) Hospital from January 2019 to December 2021, and matched nursing outcomes and measures based on the NNN-link theory framework. After two rounds of Delphi expert consultation and group discussion, the entry content was rated, discussed, and modified to form the final version of the postoperative NNN-link for liver transplant recipients.Results:In two rounds of expert consultation, the recovery rates were 96.67% (29/30) and 100.00% (29/29) , respectively. The expert authority coefficients were 0.83 and 0.84, respectively. The Kendall harmony coefficients for the second round were 0.50, 0.38, 0.35. The final postoperative NNN-link for liver transplant recipients included 15 nursing diagnoses, 42 nursing outcomes, and 106 nursing measures.Conclusions:The process of constructing the postoperative NNN-link for liver transplant recipients is scientific and reasonable, and the entries are highly specialized, which can provide reference for clinical nursing after liver transplantation.
2.Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome
Jie WANG ; Xiaoping JI ; Lichun ZHANG ; Ruiting XU ; Yan HUANG ; Yaxian LIU ; Liqiong WU ; Jin AN ; Zhiyuan GUO ; Xiaohua WANG
Chinese Journal of Medical Genetics 2022;39(6):625-629
Objective:To explore the clinical and genetic characteristics of two children with a clinical diagnosis of Treacher Collins syndrome (TCS).Methods:Whole-exome sequencing was used to screen potential variants in the two children. Confirmation of suspected variants was performed through Sanger sequencing , multiplex ligation dependent probe amplification and real-time PCR in probands and their parents.Results:A heterozygous deletion variant, c. 4357_4360delGAAA, was detected in case one, while was de novo and verified by Sanger sequencing. Thevariant was classified as pathogenic(PVS1 + PM2+ PM6)according to ACMG guideline. The heterozygous deletion of exon 1-7 was seen in the same gene in case 2, which MLPA verified as heterozygous deletion of exon 1-6. This deletion was inherited from the father with a normal phenotype, and the father’s TCOF1 gene was suspected to be chimeric heterozygous deletion of exon 1-6 verified by MLPA. Conclusion:The identified variants in the TCOF1 gene probably underlie the two cases of TCS. There was no apparent correlation between genotype and phenotype. In addition, it shows a high interfamilial variability ranging from normal to full presentation of TCS. Genetic detection provided clinical diagnosis and genetic counselling for TCS patients .

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