Objective:To analyze the clinical characteristics, treatment, and prognosis of ectopic bronchogenic cysts in children.Methods:A retrospective analysis was conducted on the data including the clinical characteristics, auxiliary examination and treatment of 21 children with ectopic bronchogenic cysts diagnosed pathologically at Children′s Hospital Affiliated to Zhengzhou University from July 2015 to December 2023. There were 16 males and 5 females, with a male-female ratio of 3.2∶1, and the age ranged from 4 days to 8 years old (median age 2 years and 8 months).Results:Among the 21 cases of ectopic bronchogenic cysts, 11 cases were found in the pharynx, with symptoms including dyspnea (4 cases), snoring during sleep (3 cases), and choking on milk(4 cases).Ten cases were found in the head, neck or anterior chest, 5 of these cases had infection history, and 5 showed progressive mass growth.Imaging and endoscopy showed 9 patients underwent preoperative color ultrasonography revealed cystic masses with well-defined boundaries. CT examination was performed on 13 patients, which showed round or nearly round masses with homogeneous density, smooth margins, and regular cyst walls. CT attenuation values ranged from 2 to 52 Hounsfield Units (HU). Four cystic lesions were assessed via MRI, 3 cases demonstrated long T1 and long T2 signals, while 1 case had a slight short T1 and long T2 signal, with high signal intensity on fat-suppressed images. Eleven cases of pharyngopharyngeal cysts were examined by electronic nasopharyngoscopy. The cysts appeared as spherical or ovoid masses with smooth surfaces, close to or slightly light in color with the surrounding tissue, with one cyst presenting with a bluish blue in the oropharynx. All 11 pharyngeal cysts were excised using low-temperature plasma under general anesthesia and intubation assisted by a nasal endoscope. The cysts were pulled and excised as completely as possible.Ten cases of neck and anterior chest cysts were completely excised. Postoperative histopathology confirmed bronchogenic cyst. Twenty-one children were followed up postoperatively for 4 months to 7 years without recurrence, except for 1 patient who was lost to follow-up.Conclusions:Ectopic bronchogenic cysts are uncommon and lack of typical imaging and clinical features.Combination of ultrasonography, CT and MRI is recommended for cases occuered in neck and anterior chest, while electronic nasopharyngoscopy complements pharyngeal evaluations. Surgical intervention is the preferred treatment choice for this disease.

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 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 MicroRNAs (miRNAs) are endogenous short stranded RNAs with a length of about 22 NT, which are highly conserved and have no coding function.Mature miRNAs play a role by specifically binding to the 3′untranslated region of the target gene, degrading the mRNA of the gene or hindering its translation at the post transcriptional level, so as to negatively regulate the expression of the target gene and play a biological role.In recent years, the research of miRNAs in cardiovascular diseases is increasingly in-depth.A large number of evidences show that miRNAs play a role in the pathogenesis of many cardiovascular diseases, and will become a potential marker and new treatment target for the diagnosis and prognosis evaluation of cardiovascular diseases.