Abstract：
OBJECTIVES:To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome. METHODS:Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control. RESULTS:The proband and his little sister suffered from typical features of sensorineural hearing loss with enlarged vestibular aqueduct (EVA). Both subjects harbored two compound heterozygous mutations in the SLC26A4 gene. A novel mutation named c.2110 G > C (p.Glu704Gln) in exon 19 and another previously reported mutation c.1673 A > T (p.Asn558Ile) were identified. These mutations were carried in the heterozygous state by the parents and therefore co-segregated with the genetic disease. The c.2110 G > C (p.Glu704Gln) mutation was absent in 1500 healthy newborns. Protein alignment indicated high evolutionary conservation of the p.E704 residue, and this mutation was predicted by online tools to be damaging and deleterious. CONCLUSION:This study demonstrates that the novel mutation c.2110 G > C (p.Glu704Gln) in compound heterozygosity with c.1673 A > T (p.Asn558Ile) in the SLC26A4 gene corresponds to the EVA in this family. Our study will provide a foundation for elucidating the SLC26A4-related mechanisms of hearing loss.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Liang Y,Peng Q,Wang K,Zhu P,Wu C,Rao C,Chang J,Li S,Lu Xdoi
10.1016/j.ijporl.2018.01.037subject
Has Abstractpub_date
2018-04-01 00:00:00pages
97-100eissn
0165-5876issn
1872-8464pii
S0165-5876(18)30053-3journal_volume
107pub_type
杂志文章abstract：:Among more than 10,000 mothers giving birth during 1974-1977, there were 20 known cases of severe placental insufficiency in connection with hypertensive disease during pregnancy. Well-documented signs of intrauterine hypoxia were observed in all the cases. In 50% of the fetuses intrauterine growth retardation was fou...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(82)90005-2
更新日期：1982-08-01 00:00:00
abstract：:Lamotrigine is an anti-epileptic drug often prescribed to children and young females. Side effects include rash, dizziness and diplopia. Over the last twenty years, two cases of lymphadenopathy due to lamotrigine have been reported. We will present the case of a 17-year old female with persistent lymphadenopathy due t...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2017.04.047
更新日期：2017-07-01 00:00:00
abstract：BACKGROUND:Group A Streptococcus (GAS) is the most important bacterial cause of acute tonsillitis in children. Some children are chronic GAS carriers, and this carriage is poorly understood. We determined the frequency of GAS detection using a rapid antigen detection test in pediatric patients with indications for tons...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.03.044
更新日期：2016-07-01 00:00:00
abstract：INTRODUCTION:Children with achondroplasia are predisposed to obstructive sleep apnea (OSA), however little is known regarding surgical interventions and outcomes for this condition. The aim of this study was to evaluate the severity of OSA in children with achondroplasia and report outcomes of surgical interventions us...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110332
更新日期：2020-11-01 00:00:00
abstract：OBJECTIVE:A foreign body aspiration in the tracheobronchial tree is a dangerous and common medical emergency in childhood, with serious and potentially lethal consequences. It must be suspected in children with a suggestive history, even though the clinical symptoms or radiographic findings are not pathognomonic for fo...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/s0165-5876(00)00324-4
更新日期：2000-06-30 00:00:00
abstract：OBJECTIVE:To evaluate the accuracy and validity of our protocol for prenatal diagnosis and genetic counseling in high-risk families at a clinic. METHODS:Fifteen unrelated families with recessive nonsyndromic hearing loss (NSHL) in their family history and a positive attitude towards prenatal diagnosis were recruited i...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2018.08.026
更新日期：2018-12-01 00:00:00
abstract：:Treatment of nasal septal deformity in childhood has received growing acceptance in recent years. Traditionally, concern about the role of the septum in the overall growth of the midface has led otolaryngologists to take a very cautious approach to correction of septal deformities in children. However, a great deal of...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/0165-5876(95)01306-7
更新日期：1996-05-01 00:00:00
abstract：OBJECTIVE:Children with sensorineural hearing impairment (SNHI) and concomitant vestibular hypofunction demonstrate deficits in gaze stability that may affect reading. The objective of this study was to develop a reliable, valid clinical test of dynamic visual acuity (DVA) for children. METHODS:Seventy-six typically d...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2003.07.004
更新日期：2003-11-01 00:00:00
abstract：OBJECTIVES:To objectively assess the effectiveness of endoscopy assisted adenoidectomy utilizing adenoid tissue volume measurement and to set some parameters for which patients are more legible to this procedure. METHODS:Forty three patients for whom adenoidectomy was conventionally done using adenoid curettes. Surgeo...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2014.04.031
更新日期：2014-08-01 00:00:00
abstract：OBJECTIVES:Adapt the Spanish translation of VPI Effects on Life Outcome (VELO) instrument into Ecuadorian Spanish; test the resulting instrument for reliability and validity. METHODS:A cross-sectional, prospective design, set at a humanitarian mission within a community hospital. Linguistic validation: native Ecuadori...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110312
更新日期：2020-11-01 00:00:00
abstract：:The aim of this study was to evaluate pro-apoptotic Bak expression in the germinal centers of adenoid in children on the assumption of the potential usefulness of Bak as adenoid function marker. The study involved 95 children undergoing adenoidectomy; divided into three age groups: aged up to 5 years (25 children), 5-...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2007.09.020
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. METHODS:Gathering information about 35 individuals who have CRS and who are congen...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2010.06.007
更新日期：2010-09-01 00:00:00
abstract：OBJECTIVES:The current study aimed to compare the auditory interference control of participants with Learning Disability (LD) to a control group on two versions of an auditory Stroop task. METHODS:A group of eight children with LD (clinical group) and another group of eight typically developing children (control group...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.09.017
更新日期：2015-12-01 00:00:00
abstract：:Lesions produced by exposure to noise are frequent in everyday life. Injuries may be found in all systems of the human body, from the digestive to the endocrine, from the cardiovascular to the nervous system. Many organs may be damaged, the ear being one of them. It is known that noise produced by factories, airports,...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(95)01289-3
更新日期：1996-03-01 00:00:00
abstract：OBJECTIVES:Cochlear implantation does wonders for children suffering from severe to profound hearing loss, especially when the child is less than 12 months of age. However, most studies indicate that detection and implantation are done well beyond that age, owing to poor socioeconomic status, parental education, and in...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110156
更新日期：2020-09-01 00:00:00
abstract：OBJECTIVE:Thyroglossal duct (TD) anomalies are generally considered to be a distinct clinical entity. However occasional cases do not conform to the standard picture and are complex. This study aimed to scrutinise consecutive cases of TD anomaly managed surgically over 7 years at a tertiary teaching hospital and analys...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2008.05.020
更新日期：2008-09-01 00:00:00
abstract：INTRODUCTION:Auditory brainstem response (ABR) is a clinically established method to identify the hearing threshold in young children and is regularly performed after hearing screening has failed. Some studies have shown that, after the first diagnosis of hearing impairment in ABR, further development takes place in a ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.03.009
更新日期：2016-06-01 00:00:00
abstract：:This review presents our studies that investigated the effects of exposure to direct and indirect smoking on the colonization with pathogenic bacteria and organisms that interfere with their growth. The flora of smokers (S) contained less aerobic and anaerobic organisms with interfering capability and more potential p...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2010.01.006
更新日期：2010-05-01 00:00:00
abstract：OBJECTIVES:VHIT is the first vestibular test to evaluate all six semicircular canals. This test has advantages over the rotary chair and caloric tests in evaluating children since it does not require fear-inducing darkness or provocation of dizziness. The goal of this study was to review our initial experience with VHI...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.05.033
更新日期：2015-08-01 00:00:00
abstract：INTRODUCTION:Despite being the second most common salivary disease in childhood, the aetiology and appropriate management of juvenile recurrent parotitis (JRP) remains uncertain. Consequently patients may be misdiagnosed, or even undergo indeterminate or potentially invasive procedures without benefit. This article rev...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2021.110617
更新日期：2021-01-04 00:00:00
abstract：OBJECTIVE:To assess the impact of the waiting list on the spontaneous resolution of recurrent acute tonsillitis in children. METHODS:We have evaluated 623 cases placed on the waiting list for elective tonsillectomy (with or without adenoidectomy) between February 1994 and May 1999 at our institution. In each child, ag...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(02)00128-3
更新日期：2002-08-01 00:00:00
abstract：OBJECTIVE:To assess the link between sleep-disordered breathing and cognitive function in children. To identify correlations among polysomnography, upper respiratory infections, or cephalometric as well as rhinometric measures. METHODS:This study is based on a questionnaire survey of snoring in a population cohort of ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2011.12.002
更新日期：2012-03-01 00:00:00
abstract：OBJECTIVE:It has been reported that acute otitis media (AOM) and respiratory infectious morbidity still are common in schoolchildren. However, the significance of early initiation of AOM on later respiratory infections is not known. The aim of the study was to assess whether early initiation of AOM is a predictor for A...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2007.04.017
更新日期：2007-08-01 00:00:00
abstract：OBJECTIVE:The purpose of this study was to investigate the development of auditory preverbal skills in Mandarin speaking infants/toddlers with cochlear implants (CIs). METHODS:Participants were recruited from the Pediatric Audiology Center of Beijing Children's Hospital, Capital Medical University. A total of 33 child...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2014.11.010
更新日期：2015-01-01 00:00:00
abstract：:We present two siblings with severe laryngomalacia requiring surgical intervention during the newborn period, microcephaly, developmental delay, cleft palate, preaxial polydactyly, dysplastic nails and conductive hearing loss (persistent after tympanostomy tube placement). In addition the girl has microopthalmia and t...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2006.04.010
更新日期：2006-09-01 00:00:00
abstract：OBJECTIVES:To evaluate the prevalence and features of pediatric laryngeal malignancies and to review the demographics, management, and survival of pediatric patients with laryngeal squamous cell carcinoma as compared to adult patients. METHODS:Patients aged 0 (younger than 1) to 18 with laryngeal malignancy identified...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110507
更新日期：2021-01-01 00:00:00
abstract：OBJECTIVE:This paper will provide (a) a review on current status of auricular reconstruction (b) particularly focusing on the current data about pinna reconstruction using stem cells in combination with tissue engineering. METHODS:The paper is divided into two sections. The first section presents a brief overview of t...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2006.03.013
更新日期：2006-09-01 00:00:00
abstract：:Trisomy 22 has multiple physical anomalies, and aural malformations are commonly associated with trisomy 22. However, there has been only one report describing the temporal bone histopathology in trisomy 22. Our case is the second reported temporal bone histopathology of trisomy 22. Aural anomalies in this case were l...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(01)00459-1
更新日期：2001-06-07 00:00:00
abstract：:Nasal gliomas are neurologic malformations that should be considered in the presence of a congenital nasal mass. Appropriate pre-operative examination must be performed to identify a possible connection with CNS, which is present in 15-20% of the cases. This examination should determine whether initial craniotomy is n...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(98)00114-1
更新日期：1998-11-15 00:00:00
abstract：OBJECTIVES:Bell's palsy is considered the most common cause of facial nerve paralysis in children. Although different theories have been postulated for its diagnosis, reactivation of the Varicella zoster virus (VZV) has been implicated as one of the causes of Bell's palsy. The aim of the study was to evaluate the assoc...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2014.12.010
更新日期：2015-03-01 00:00:00
