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Background: Nursing work in the Eye, Ear, Nose, and Throat (EENT) emergency department is highly specialised and faces significant challenges. Therefore, a high level of nursing competence is necessary for nurses. To develop core competencies, a systematic and standardised training program is required. This study aims to construct a standardised, systematic, and professional training program for nurses working in the EENT emergency department in China. Methods: Based on a literature review and semi-structured interviews, the training scheme draft was developed according to the theoretical framework of core competency for emergency nurses. From July 2023 to October 2023, a total of 21 experts including clinical experts, and nursing experts were selected to conduct 2 rounds of Delphi consultation to construct the training program for EENT emergency nurses. Results: The effective response rate for 2 rounds of expert consultation was 100%. The expert authority coefficient was 0.905, and Kendall's W coefficients were found to be 0.359 and 0.340, respectively. The coefficients of variation for each item of the second round of expert consultation ranged from 0 to 0.19. The finalised training program for EENT emergency nurses consisted of 4 first-level indexes (training objectives, training management, training contents, and training assessment). The training objectives included 3 secondary indicators and 16 tertiary indicators. Training management included 5 secondary indicators and 8 tertiary indicators. Training contents included 4 secondary indicators and 16 tertiary indicators. Training assessment included 3 secondary indicators and 6 tertiary indicators. Conclusion: This study systematically and comprehensively explores the cultivation of nurses working in the EENT emergency department from the aspects of training objectives, training management, training contents, and training assessment. This training program is based on the theoretical framework of core competency standards for emergency nurses. It is in line with the actual needs of the clinic, and the training program is scientific and reliable, which can be promoted nationwide to provide a reference basis for the improvement of the training of emergency specialist nurses. Trial registration: Not applicable. [ABSTRACT FROM AUTHOR]

Background: CHEDDA syndrome is a rare neurodevelopmental syndrome caused by heterozygous missense or indel variants in the HX repeat motif of ATN1 gene. To date, CHEDDA has been identified in a few ethnic groups, and only 17 patients have been reported in literature, and no case has been reported in any country or region in Asia. Methods: Trio‐exome sequencing (Trio‐ES) examination was conducted in a Chinese girl with global developmental delay and in her parents. Sanger sequencing was performed to confirm the candidate variant. Results: This patient presented with mental and motor developmental delay, speech delay, and mild dysmorphic facial features, and had no epilepsy and visual impairment. Brain MRI did not show obvious structural abnormality. Through ES we identified a novel and de novo variant, c.3176_c.3177insGCACCT (p.Ser1059_His1060insHisLeu), within the HX motif of ATN1. No other pathogenic variant in another gene was found to support an alternative clinical and molecular diagnosis. Conclusions: This is the first described case of CHEDDA from China. Together with the available literature data, we found that either disruption of HX motif or alteration of the HX repeat number would lead to ATN1‐associated CHEDDA. We also noted that CHEDDA is a clinical heterogenous syndrome, and patients carrying the same or similar variant might have different clinical manifestations and prognosis. [ABSTRACT FROM AUTHOR]

Background: Thoracic aortic aneurysm or dissections (TAADs) represent a group of life-threatening diseases. Genetic aetiology can affect the age of onset, clinical phenotype, and timing of intervention. We conducted a prospective trial to determine the prevalence of pathogenic variants in TAAD patients and to elucidate the traits related to harbouring the pathogenic variants. One hundred and one unrelated TAAD patients underwent genetic sequencing and analysis for 23 TAAD-associated genes using a targeted PCR and next-generation sequencing-based panel., Results: A total of 47 variants were identified in 52 TAAD patients (51.5%), including 5 pathogenic, 1 likely pathogenic and 41 variants of uncertain significance. The pathogenic or likely pathogenic (P/LP) variants in 4 disease-causing genes were carried by 1 patient with familial and 5 patients with sporadic TAAD (5.9%). In addition to harbouring one variant causing familial TAAD, the FBN1 gene harboured half of the P/LP variants causing sporadic TAAD. Individuals with an age of onset less than 50 years or normotension had a significantly increased genetic risk., Conclusions: TAAD patients with a younger age at diagnosis or normotension were more likely to carry a P/LP variant; thus, routine genetic testing will be beneficial to a better prognosis through genetically personalized care prior to acute rupture or dissection., (© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).)

Germline gain-of-function (GOF) mutations in the CARD11 gene lead to a rare primary immunodeficiency disease known as B cell expansion with NF-κB and T cell anergy (BENTA). Affected patients present with a polyclonal expansion of B cells, lymphadenopathy, and splenomegaly. Herein, we report a novel germline in-frame three base-pair deletion (c.1030_1032del, p.K344del) in the CARD11 gene in a patient with atypical BENTA, presenting with a recurrent fever and B cell lymphocytosis. This mutation was inherited from his mother, who is clinically asymptomatic and had a recurrent respiratory tract infection in her childhood. In vitro functional analysis demonstrated that this variant decreased the expression level of the CARD11 protein and activated the NF-κB signal pathway, leading to a higher expression of several NF-κB target gene transcripts in HCT116 cells transfected with mutant CARD11 (K344del-CARD11) as revealed by RNA sequencing analysis. To our knowledge, only 23 BENTA patients have been identified and carried seven distinct GOF mutations in CARD11 . The clinical manifestations of patients are highly heterogeneous and there was no significant correlation between genotype and phenotype. In summary, we identified a novel in-frame three base-pair deletion that may be responsible for the pathogenesis of atypical BENTA in a Chinese family. Our study expands the mutational spectrum of the CARD11 gene and may be helpful in the understanding of diseases caused by CARD11 mutations and the clinical management of BENTA., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zhao, Hu, Sun, Meng, Zhang, Zhang, Tan, Zhang, Ding and He.)