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 .

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.