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.

This article reports a case of congenital choanal atresia with additional nostril and nasal deformities admitted to Henan Children's Hospital. A 43-day-old female patient was admitted to the hospital because of wheezing with mouth opening breathing and restricted feeding after birth'. The patient was diagnosis as bilateral congenital posterior nostril membranous atresia, congenital extra nostril nasal deformity and nasal stenosis by fiberoptic nasopharyngoscopy, CT, gene detection, and physical examination results. Under general anesthesia, endoscopic bilateral posterior nostril plasty and left anterior nostril plasty were performed. The child recovered well after operation.
Humans ; Choanal Atresia/surgery* ; Female ; Nasal Cavity/abnormalities* ; Infant ; Nose/surgery* ; Endoscopy/methods*

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.

Prevalence of childhood obesity is progressively increasing, reaching worldwide levels of 5.6% in girls and of 7.8% in boys. This also leads to a corresponding increase in the prevalence of obesity-associated morbidities particularly those involving obstructive sleep apnea（OSA）. Obesity is an independent risk factor and regulator of OSA in children. There is a bidirectional causal relationship between OSA and obesity in children. The factors involved in the association between OSA and obesity are systemic inflammation, oxidative stress, and gut microbiota etc. However, a causal link between obesity-related inflammatory state and OSA pathogenesis still needs to be properly confirmed. The present review aimed to investigate the links between childhood obesity and OSA.
Male ; Female ; Humans ; Child ; Pediatric Obesity/epidemiology* ; Sleep Apnea, Obstructive/epidemiology* ; Risk Factors ; Inflammation

BACKGROUND: Bronchial tuberculosis is a common complication of pulmonary tuberculosis. The present report is to investigate and analyze the indication and efficacy of surgical treatment of bronchial stricture due to severe endobronchial tuberculosis, when the drug and endoscopic treatment were no effect. METHODS: Reviewed the clinical-pathological records documenting the surgical outcomes in 36 bronchial stricture due to severe endobronchial tuberculosis who underwent lobectomy or pneumonectomy enrolled in our hospital between January 2000 and February 2016. Pneumonectomy in 8 cases, lobectomy in 23 cases, sleeve resection in 5 cases. RESULTS: No intraoperative or early postoperative death occurred. Six patients developed complications. All 6 cases recovered well after treatment. CONCLUSIONS Surgical treatment is still the recommended treatment modatity for bronchial stricture caused by endobronchial tuberculosis due to its good results. It should be performed in time when the drug and intraluninal treatment were no effect for avoiding of being progeressed.
Adolescent ; Adult ; Bronchi ; surgery ; Bronchoscopy ; Female ; Humans ; Male ; Middle Aged ; Pneumonectomy ; Retrospective Studies ; Tuberculosis, Pulmonary ; surgery ; Young Adult

Objective To investigate the correlation between auditory steady-state response (ASSR)and behavioral audiometry threshold in deaf children.Methods A total of 63 cases (126 ears)of severely and profoundly hearing impaired children from 0.5 years to 6 years were divided to Group A of 0.5~1.0 years,Group B of 1.1~3.0 years and Group C of 3.1~6.0 years old.ASSR and behavioral hearing tests were conducted in the sound field. 0.5~1.0 years old children were tested with the behavior observation Audiometry (BOA),1~2 years old children with visual reinforcement audiometry (VRA),while those of 3 ~6 with play audiometry (PA).Results For the ASSR response thresholds and pure tone hearing thresholds at 0.5,1,2 and 4 kHz,the correlation coefficients were 0.75,0.76,0.76,and 0.83,respectively.There was a significant correlation (P <0.01 ).The hearing thresholds were generally lower than the ASSR response thresholds,and with increasing frequency,the gaps were narrowed between the two.For Group A at each frequency the response thresholds and behavioral audiometry correlations were lower than those of Group B and C with the lowest at 0.5 kHz.Conclusion For the children of 0.5~6 years, ASSR and behavioral audiometric thresholds have good correlations.ASSR can provide information about the behav-ior thresholds for young children and those high risk children and for fitting hearing aids.

OBJECTIVE: To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL). METHOD: Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted. RESULT: Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations. CONCLUSION Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.
China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Deafness ; genetics ; Gene Frequency ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; RNA, Ribosomal ; genetics ; Sulfate Transporters

Objective To explore the perioperative management of bilateral bronchial foreign bodies in infants to improve the cure rate in the children.Methods The medical charts of 45 infants with bilateral bronchial foreign bodies were reviewed.Clinical features and key points to surgery as well as post-operative care were analyzed.Results All foreign bodies were removed with rigid bronchoscopy under general anesthesia,and 44 of 45 infants were cured with assistance of anti-infective treatments within 3-5 days and one with acute laryngitis and bronchitis was cured through 10-day anti-infective treatment with vancomycin.Conclusion Removal of foreign body by rigid bronchoscopy under general anesthesia is a preferred method to treat bilateral bronchial foreign bodies in infants,to whom early diagnosis,early treatment and postoperative careful care are keys to get a good outcome.

Objective To investigate the clinical characteristics of bronchial tumors in 3 children to improve the diagnosis of pediatric bronchial tumor.Methods Three cases of children bronchial malignant tumors diagnosed by rigid bronchoscopy were analyzed retrospectively.Results The 3 children were males,aged from 6 to 10 years old, and presented with cough, sputum, and fever symptoms for 1 day to 3 months.Chest CT scan and airway remodeling examinations indicated the children ~ main bronchi were blocked and then the diagnoses of bronchial foreign bodies were made.However bronchial tumors were found in the 3 children by rigid bronchoscopy and were determined as mucoepidermoid carcinoma, large cell lung carcinoma with rhabdoid phenotype, and inflammatory myofibroblastic tumor, respectively.Conclusions Children with bronchial tumor often present with cough, wheezing and other respiratory symptoms that are not specific to bronchial tumor.When a child complaint of repeated cough and wheezing symptoms with unknown cause,not only bronchial foreign body and also bronchial tumor should be considered.