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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ()

Objective: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hea......

Risk factors analysis and intervention of lung dysfunction in children with obstructive sleep apnea: A retrospective case series study

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 146 ()

Objectives: To establish an optimized airway management process to improve preoperative lung dysfunction in obstructive sleep apnea (OSA). Methods: Th......

De novo TCOF1 mutation in Treacher Collins syndrome

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 147 ()

Objective: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia,......

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 147 ()

Objectives: To determine the clinical characteristics and genetic causes of Waardenburg syndrome type 1 (WS1) present in a Chinese Han family. Methods......

Electrically evoked auditory brainstem responses to electrical stimulation at round window membrane in congenitally deaf children at different ages

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 148 ()

Objectives: To investigate the usefulness of measuring the electrically evoked auditory brainstem responses (eABRs) to electrical stimulation at the r......

Conductive hearing loss in large vestibular aqueduct syndrome -clinical observations and proof-of-concept predictive modeling by a biomechanical approach

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 146 ()

Objective: The purpose of this study was to investigate the effect of a dilated vestibular aqueduct on conductive hearing loss (CHL). A biomechanical ......

A normative study of auditory perception in Mandarin-speaking children with categories of auditory Performance-II

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ()

Objective: The aim of this study is to investigate the development of auditory skills in Mandarin-speaking children with normal hearing using CAP-II, ......

Study on the role of methylation in nonsyndromic cleft lip with or without cleft palate using a monozygotic twin model

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 143 ()

Objective: The research on the etiology of nonsyndromic cleft lip with or without cleft palate(NSCL/P) is challenging, and DNA methylation has an impa......

The expression of VEGF and VEGFR in endotoxin induced otitis media with effusion in rats

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 144 ()

Objective: To investigate the expression and correlation of vascular endothelial growth factor (VEGF) and its receptor with hypoxia-inducible factor-1......

Application of situational adaptation training combined with childlike nursing for children undergoing tonsillectomy or adenoidectomy

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ()

Objective: This study aimed to investigate the clinical effect of situational adaptation training combined with child-friendly nursing in relieving th......

The heterogeneity of fibroblasts in laryngotracheal stenosis and skin hypertrophic scar in pediatric patients

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ()

Objectives: To investigate the heterogeneity between the laryngotracheal stenosis and hypertrophic scar derived fibroblasts. Methods: Human laryngotra......

Evaluation of respiratory system anomalies associated with microtia in a Chinese specialty clinic population

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 146 ()

Background: Microtia is a congenital malformation of the external ear often with one or more associated congenital anomalies. The purpose of this stud......

Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 148 ()

Objectives: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular caus......

The outcome and complication of endoscopic removal of pediatric ear foreign body

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 146 ()

Objective: To evaluate the outcome and complications of endoscopic removal of pediatric ear foreign bodies (FBs). Methods: This study was a retrospect......

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants

期刊: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ()

Background: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, sev......

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