Abstract:
:Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A mutations in profound hearing loss children is also discussed. We sequenced all exons of the MYO7A gene in 80 Japanese children with severe to profound non-syndromic HL not due to mutations of the GJB2 gene (ages 0-14 years). A total of nine DNA variants were found and six of them were presumed to be non-pathogenic variants. In addition, three variants of them were found in two patients (2.5%) with deafness and were classified as possible pathogenic variants. Among them, at least one nonsense mutation and one missense mutation from the patient were confirmed to be responsible for deafness. After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Yoshimura H,Iwasaki S,Kanda Y,Nakanishi H,Murata T,Iwasa Y,Nishio SY,Takumi Y,Usami Sdoi
10.1016/j.ijporl.2012.11.007subject
Has Abstractpub_date
2013-02-01 00:00:00pages
298-302issue
2eissn
0165-5876issn
1872-8464pii
S0165-5876(12)00625-8journal_volume
77pub_type
杂志文章abstract:OBJECTIVE:The round window membrane (RWM) encloses the round window, the opening into the scala tympani (ST) from the middle ear. During the course of acute otitis media (AOM), structural changes of the RWM can occur that potentially affect sound transmission into and out of the cochlea. The relationship between such s...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.06.049
更新日期:2016-09-01 00:00:00
abstract::Dextran solutions of low viscosity (7.5 centipoise) and high viscosity (2.2 poise) were instilled in turn into the middle ears of guinea pigs, using an open bulla preparation. The degree of conductive hearing loss induced was assessed by measurement of the cochlear microphonic. Both solutions produced a comparable deg...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(83)80006-8
更新日期:1983-01-01 00:00:00
abstract::Upper respiratory infections (URI) during the first years of life are mostly viral in origin. However, a number of observations suggest the influence of both predisposing and triggering factors. Atopy in particular seems to play an important role as do environmental factors. Many children with early symptoms such as b...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(92)90137-e
更新日期:1992-09-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Sensorineural hearing loss is a common diagnosis among children. The diagnostic workup varies widely among practitioners. This study's aim was to assess the utilization of diagnostic testing for SNHL and determine the yield of each test. STUDY DESIGN:Retrospective chart review. SETTING:Tertiary c...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.05.024
更新日期:2018-08-01 00:00:00
abstract::The autopsy and surgical pathologic diagnosis of lesions of the laryngotrachea of young persons can be difficult. The clinical and histopathologic features that aid differential diagnosis are discussed. ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(84)80001-4
更新日期:1984-07-01 00:00:00
abstract:OBJECTIVES:To evaluate the reliability and validity of the Chinese version of pediatric voice handicap index (pVHI). MATERIAL AND METHODS:The original English version-pVHI was translated into Chinese. Parents of 52 children with voice dysphonia and 43 children with no history or symptoms of voice problems were asked t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.12.018
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVES:To identify etiologies of congenital nasal obstruction and describe clinical practice patterns in the evaluation, diagnosis, and treatment of symptomatic infants. METHODS:An electronic chart review from 1/1/2006-10/1/2016 for all patients with a diagnosis of nasal obstruction within the first six months of ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2017.05.023
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:To investigate the genetic causes of hearing loss in a two generation Chinese family with enlarged vestibular aqueduct syndrome (EVAS). METHODS:Clinical and genetic evaluations were conducted in a deaf proband and her normal-hearing parents. Sanger sequencing analysis of all the 21 exons, the exon-intron bou...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.03.020
更新日期:2016-06-01 00:00:00
abstract::Thirty-three cases of ethmoidities with orbital complications were reviewed to determine the accuracy of clinical diagnosis and the benefit of CT scans in planning treatment. Patients were classified according to the Schramm et al. 1982 criteria of orbital involvement with ethmoiditis: periorbital cellulitis with chem...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(88)90062-6
更新日期:1988-05-01 00:00:00
abstract:INTRODUCTION:The diagnosis and management of type I laryngeal clefts can be controversial and varies across centers and surgeons. Using existing peer-reviewed literature to develop an expert-based consensus will help guide physicians in the treatment of these patients as well as develop research hypotheses to further s...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.07.016
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVES:To analyze vestibular function Q2 (VF) after cochlear implantation (CI) in children. METHODS:Retrospective cohort study at a tertiary pediatric referral center. 43 children that had vestibular testing (VT) after unilateral cochlear implantation, from 2001 to 2010, were included. CT scan of the temporal bone...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.11.002
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:To determine the dimensions of the nasal cavity in infants with congenital pyriform aperture stenosis (CPAS). STUDY DESIGN:The nasal cavities of seven children with CPAS were identified and were compared to the nasal cavities of 13 neonates (<30 days old) who had received CT scans for other indications. MET...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.08.021
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to develop and evaluate a Swedish version of the Hearing In Noise Test for Children (HINT-C). DESIGN:In the first part, the Swedish HINT lists for adults was evaluated by children at three signal to noise ratios (SNRs), -4, -1 and +2 dB. Lists including sentences not reaching 50% re...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110509
更新日期:2021-02-01 00:00:00
abstract::Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical featur...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.06.003
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVES:(1) To define normative nasalance data for Dutch language with "the NasalView System", and obtain a reference for normality when nasality is evaluated in children. (2) To investigate the minimal number of required speech tasks for a reliable nasalance measurement. METHODS:55 children (30 normal and 25 velop...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.03.011
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:Chloral hydrate (CH) is an oral sedative widely used to sedate infants and young children during auditory brainstem response (ABR) testing. The aim of this study was to record effectiveness, complications and safety of CH as a sedative for ABR. METHODS:From January of 2003 until December of 2007, 1903 childr...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.02.010
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVES:Since the pragmatic skills of hearing-impaired Persian-speaking children have not yet been investigated particularly through story retelling, this study aimed to evaluate some pragmatic abilities of normal-hearing and hearing-impaired children using a story retelling test. METHODS:15 normal-hearing and 15 p...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.02.025
更新日期:2017-05-01 00:00:00
abstract::Reconstructive techniques for the stenotic pediatric airway have greatly enhanced the otolaryngologists ability to decannulate the tracheotomy-dependent child. Stents have played an important role in this process by both maintaining the reconstructed lumen and acting as a scaffold. However, decannulation is often not ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(94)90013-2
更新日期:1994-01-01 00:00:00
abstract::Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we a...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2017.03.008
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Voice disorders in children are common but ways of their analysis are limited. We conducted a prospective feasibility study of rigid stroboscopy in children. METHODS:All children referred for voice analysis during the years 2002-2003 were evaluated including subjective perception of voice, voice recording, f...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.03.004
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVES:To investigate the outcomes of rigid endoscope-assisted orotracheal intubation (REI) in neonates and young infants with difficult airway conditions as an alternative intubation technique when more specific airway instruments are not available in most developing countries, and to evaluate the safety and advan...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.04.023
更新日期:2018-07-01 00:00:00
abstract::The presence in childhood of tinnitus is still a neglected problem both in pediatric and otorhinolaryngological literature, even if it is not uncommon in the pediatric population. In fact its incidence ranges from 13 to 29% in children with normal hearing function and is reported in 59% of children with hearing loss. ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(02)00031-9
更新日期:2002-05-31 00:00:00
abstract::We present an unusual case of temporary sensorineural hearing loss in a 6-year-old child due to carbon monoxide. This was shown on both the audiograms and confirmed with objective testing using otoacoustic emissions. Carbon monoxide poisoning is one of the few recognised causes of reversible sensorineural hearing loss...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(02)00202-1
更新日期:2002-12-02 00:00:00
abstract:OBJECTIVES:Our aims were to measure and compare anatomical parameters of the ossicles in normal, congenital aural stenosis (CAS), and congenital aural atresia (CAA) ears. METHODS:This retrospective study was performed using three-dimensional reconstructed images derived from computed tomography scans of 20 normal subj...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.08.013
更新日期:2017-10-01 00:00:00
abstract::Children with obsessive compulsive disorder or tic disorders that are associated with streptococcal infections (Group A beta-hemolytic) in the oro-pharyngeal region are given the diagnosis of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Tonsillectomy has been repor...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.03.006
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVES:Newborn (NB) auditory deficit has a prevalence of 1-2% in the world. Since the 1990s different screening programs have been put into practice. The Newborn Hearing Screening Program has been in operation since 2002 in our hospital (HCUVA) in Murcia (Spain) and two years later it was introduced into the whole ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.07.009
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:This study was performed to propose the proper surgical timing of infected preauricular sinus (PAS) by comparing surgical results of active infection PAS group (AIPASG) to infection-controlled/or non-infected PAS group (IC/NIPASG). METHODS:Two hundred and twelve patients with PAS who underwent surgical exci...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110129
更新日期:2020-08-01 00:00:00
abstract:OBJECTIVES:To describe clinical findings from a multidisciplinary program for children with permanent hearing loss (PHL). METHODS:Retrospective chart review at a tertiary care children's hospital. PATIENTS:Two hundred patients charts were selected from the population of 260 children with permanent hearing loss presen...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.05.019
更新日期:2011-08-01 00:00:00
abstract::The effect of middle-ear dysfunction and disease on hearing and language development at one year of age was evaluated for 143 high-risk infants. These infants were categorized as normal or abnormal based on otologic history, otoscopic examinations, and on tympanometric examinations. Language was significantly related ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(79)90004-1
更新日期:1979-09-01 00:00:00
abstract::A case of extra osseous mesenchymal chondrosarcoma occuring in the parapharyngeal space in a 7-year-old girl, is being presented for its rarity. It is a slow growing, locally aggressive tumour with a high incidence of local recurrence as well as distant metastasis. It is rare in the pediatric age group and rarer in th...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(99)00209-8
更新日期:1999-10-15 00:00:00