Chinese journal of otorhinolaryngology head and neck surgery最新文献

Objective: To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Methods: Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants. Then, Sanger sequencing was used to test co-segregation in the family, and transcriptome sequencing was used to investigate the effect of a variant on splicing. Results: The proband has auditory neuropathy combined with symptoms such as development delay, muscle weakness, and seizure. The patient carries two variants in NARS2 (NM_024678.6), namely: c.779A>C (p.Glu260Ala) and c.372+3A>G (intronic variant), of which c.779A>C is inherited from the father and c.372+3A>G from the mother. Both variants have not been reported in the literature or included in any databases. Transcriptome sequencing results indicate that the c.372+3A>G variant leads to the skipping of the third exon during transcription. According to the American College of Medical Genetics and Genomics(ACMG) guidelines, the c.779A>C variant and c.372+3A>G are classified as likely pathogenic. Based on the patient's phenotype and genetic testing results, the proband has been diagnosed with combined oxidative phosphorylation deficiency 24(COXPD24). Conclusions: The pathogenic variants in the NARS2 gene are the underlying cause of the patient's disease. The identification of novel variants enriches the mutational spectrum of the NARS2 gene, providing evidence for further clarification of the relationship between NARS2 and COXPD24.

Objective: To develop the children's postoperative health-related quality of life scale for thyroid cancer and to test its reliability and validity. Methods: The first draft of the scale was developed through literature search, focus group meetings, and a pre-survey, and 116 children (76 for testing and 40 for external validation) with thyroid cancer attending Beijing Children's Hospital of Capital Medical University were selected to answer the scale, to screen and categorize the questions and to form the final scale with multiple dimensions. Results: The children's postoperative health-related quality of life scale for thyroid cancer contained 5 dimensions and 29 questions. Exploratory factor analysis showed that the cumulative variance explained by the 5 factors was 64.343%. Confirmatory factor analysis showed correlations between the questions and dimensions of this scale, fair convergent validity for the scale, and good discriminant validity. The validity of the validity scale showed that there was a existing correlation between the questions and the validity scale of this scale. The item-dimension correlation coefficients showed that the questions in each dimension were well differentiated. The total Cronbach's α coefficient of the scale was 0.930, the folded half reliability was 0.843, and retest reliabilities at 2 weeks, 1 month, and 3 months after the initial test were respectively 0.936, 0.922, and 0.910. Conclusion: The developed children's postoperative health-related quality of life scale for thyroid cancer has good reliability and validity and can be used to assess the health-related quality of life of children after thyroid cancer surgery.

Objective: To investigate the preliminary efficacy of 3D printed individualized genioglossus advancement (GA) for the treatment of obstructive sleep apnea (OSA) in adults with micrognathia. Methods: The OSA patients with retropalatal and retroglossal collapses due to micrognathia underwent 3D printed individualized GA combined with Uvulopalatopharyngoplasty(UPPP) in Department of Otolaryngology, Head and Neck Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University. Clinical data including pre-and post-operative polysomnography (PSG), cephalometric measurements of genioglossus advancement, patient-reported symptom and surgical complications were collected. A comparison of pre-and post-operative data was conducted using paired t-tests. Results: Nineteen OSA patients with micrognathia successfully underwent 3D printed individualized GA combined with UPPP, and achieved an actual mean genioglossus advancement distance of (9.0±1.4) mm compared to the planned distance of (9.4±1.0) mm preoperatively (t=0.81, P=0.427). Among the 14 patients followed up for more than 6 months, the mean AHI reduced by 60.4% at 6 months postoperatively, with 5 cases (5/14) cured and 5 cases (5/14) showing significant improvement, resulting in an overall surgical response rate of 10/14. All patients expressed satisfaction with their postoperative facial appearance, with 13 cases perceiving an improvement in attractiveness. Two patients reported temporary genial numbness, and one patient experienced temporary mandibular occlusal asthenia. Conclusion: The 3D printed individualized GA combined with UPPP effectively reduces AHI in adult OSA patients with micrognathia, accompanied by a low incidence of surgical complications and high patient satisfaction regarding postoperative facial appearance.