A5048820686- Reconstructive Facial Surgery Techniques
- Ear Surgery and Otitis Media
- Congenital Ear and Nasal Anomalies
- Hearing, Cochlea, Tinnitus, Genetics
- Ocular Disorders and Treatments
- Craniofacial Disorders and Treatments
- Hearing Loss and Rehabilitation
- Facial Nerve Paralysis Treatment and Research
- Cleft Lip and Palate Research
- Meningioma and schwannoma management
- Combustion and flame dynamics
- Advanced Combustion Engine Technologies
- Combustion and Detonation Processes
- Platelet Disorders and Treatments
- CRISPR and Genetic Engineering
- dental development and anomalies
- Noise Effects and Management
- Connective tissue disorders research
- Tumors and Oncological Cases
- Developmental Biology and Gene Regulation
- Functional Brain Connectivity Studies
- Genomic variations and chromosomal abnormalities
- Vestibular and auditory disorders
- Autism Spectrum Disorder Research
- Medical and Biological Sciences
Peking Union Medical College Hospital
2017-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2017-2024
Beijing Jiaotong University
2022-2023
Textron Systems (United Kingdom)
2019
Objectives: To evaluate the long-term outcomes of three different types bone conduction hearing implants (BCHI)—BAHA, Ponto, and Bonebridge—in Mandarin-speaking patients with bilateral microtia-atresia. Methods: This cohort study enrolled 59 affected by microtia-atresia, an upper threshold limit 30 dB HL at frequencies 0.5 to 4 kHz. All subjects underwent unilateral BCHI surgery, including 26 (18 males, 8 females, mean age 8.7 ± 1.9 yr) implanted BAHA devices; 10 (7 3 11.7 2.8 Ponto 23 (14 9...
Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with incidence rate 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, variants 8–11% cases remain unknown. The object this study to describe molecular basis 14 clinically diagnosed patients from four families using Whole-exome sequencing (WES) followed by Sanger confirmation, analyze effect bone conduction hearing...
Background Hemifacial microsomia (HFM) is a type of rare congenital syndrome caused by developmental disorders the first and second pharyngeal arches that occurs in one out ~5,600 live births. There are significant gaps our knowledge pathogenic genes underlying this syndrome. Methods Whole exome sequencing (WES) was performed on five patients, asymptomatic carrier, two marry-in members five-generation pedigree. Structure WARP (product VWA1) predicted using Phyre2 web portal. In situ...
Microtia-atresia is a rare type of congenital craniofacial malformation causing severe damage to the appearance and hearing ability affected individuals. The genetic factors associated with microtia-atresia have not yet been determined. AMER1 gene has identified as potentially pathogenic for in two twin families. An amer1 mosaic knockdown zebrafish model was constructed using CRISPR/Cas9. phenotype development process cranial neural crest cells were examined. Components Wnt/β-catenin pathway...
Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic mutations genes have been identified in microtia-atresia patients. We designed a panel 131 external/middle inner deformity. Targeted genomic capturing combined next-generation sequencing (NGS) was utilized to screen for 40 severe Mutations detected NGS were filtered validated. And then...
Neuroimaging studies have shown marked alterations in brain function after auditory deprivation, with these mainly caused by sensorineural hearing loss. To date, however, little is known about the patterns of functional reorganization conductive loss (CHL). The effects congenital unilateral CHL on human were assessed resting-state magnetic resonance imaging 24 patients microtia (UM) and 25 healthy controls. Focal seed-based connectivity analyzed to characterize spontaneous activity network...
Microtia is a congenital malformation of the external ear caused by genetic and/or environmental factors. However, no causal mutations have been identified in isolated microtia patients. In this study, we utilized targeted genomic capturing combined with next-generation sequencing to screen for 307 deafness genes 32 Forty-two rare heterozygous 25 genes, including 22 novel 24 unilateral cases were identified. Pathway analysis found five pathways especially focal adhesion pathway and...
We used data from twins and their families to probe the genetic factors contributing microtia-atresia, in particular, early post-twinning variations that potentially account for discordant phenotypes of monozygotic twin pairs. Six congenital microtia-atresia were recruited study. The six patients shared a consistent clinical phenotype unilateral microtia-atresia. Whole-exome sequencing (WES) was performed all pairs parents. Family segregation multiple bioinformatics methods applied identify...
Abstract Hereditary deafness is a common neurosensory disorder, and 148 non‐syndromic genes have been identified to date. Gene therapy has used treat variety of genetic diseases, but no gene drug for hereditary approved clinical use. At present, several trials are underway. However, few normative documents issued guide the standardization hearing loss, this document first global guideline loss. The guidelines were jointly developed drafted by experienced audiologists, virologists biologists...
Background: Various amplification options are available for patients with congenital bilateral conductive hearing loss. Unilateral bone conduction device (BCHD) is widely used these patients, whereas benefits of BCHDs in certain subgroups require further exploration.Objectives: To evaluate functional and directional unilateral Bonebridge (MEDEL) contralateral ADHEAR devices.Materials methods: This study included 32 (20 males, 12 females), mean age 11.8 years (range 7–27 years). Hearing...
Objectives/Hypothesis The co‐occurrence of sensorineural hearing loss (SNHL) and congenital heart disease (CHD) is a rare condition with complex etiologies. purpose this study to assess the etiologies, clinical features, outcomes cochlear implant (CI) in patient population. Study Design Case series literature review. Methods Clinical data children who were diagnosed SNHL CHD received CIs at tertiary hospital from 2016 2021 retrospectively analyzed. A review was performed identify patients...
Background: A transcutaneous bone-conduction hearing device (tBCHD), the Baha Attract System has been recently introduced to China, and very few studies have assessed efficacy of this system in speakers mandarin.Objectives: This study aims analyze functional cosmetic outcomes system.Materials Methods: prospective included 11 patients (nine males, two females), mean age 16 years (range 9–32 years). Seven were conducted implantation simultaneously with auricle reconstruction, other four before...
Objective: To perform a comprehensive comparison on the therapeutic effects of unilateral 31.5 mm and 28 cochlear implantation (CI) post-operative hearing rehabilitation outcomes, including threshold, speech recognition quality life, in patients with bilateral sensorineural loss. Methods: A total 26 [12 males, 14 females, aged 19-71 (43±16) years] diagnosed severe-to-profound loss at Peking Union Medical College Hospital from April 2018 to August 2019 were included. Patients underwent...
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on family in which germline mosaicism for TCS was likely present. The proband diagnosed with based the typical clinical features and pathogenic variant TCOF1 (c.4369_4373delAAGAA, p.K1457Efs*12). mutation not detected his parents’ peripheral blood DNA samples, suggesting de novo had occurred proband. However, year later, proband's mother became...
Hypothesis The current study employed a skull-simulator verification method to assess whether the output of softband bone conduction hearing devices (BCHDs) at manufacturer's default settings deviated widely from target determined by fitting formula. Background Real ear analysis is utilized for air (ACHDs) in variety institutions. This procedure, however, has not been used BCHDs, largely due difficulty testing these temporal bones. Despite availability skull simulators, they have clinically...