Abstract:
OBJECTIVES:The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. METHODS:Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. RESULTS:We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. CONCLUSION:A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Cengiz FB,Yilmazer R,Olgun L,Sennaroglu L,Kirazli T,Alper H,Olgun Y,Incesulu A,Atik T,Huesca-Hernandez F,Domínguez-Aburto J,González-Rosado G,Hernandez-Zamora E,Arenas-Sordo ML,Menendez I,Orhan KS,Avci H,Mahdieh N,Bondoi
10.1016/j.ijporl.2017.08.006subject
Has Abstractpub_date
2017-10-01 00:00:00pages
167-171eissn
0165-5876issn
1872-8464pii
S0165-5876(17)30381-6journal_volume
101pub_type
杂志文章abstract:OBJECTIVE:Evaluate the readability of online and mobile application health information about velopharyngeal insufficiency (VPI). METHODS:Top website and mobile application results for search terms "velopharyngeal insufficiency", "velopharyngeal dysfunction", "VPI", and "VPD" were analyzed. Readability was determined u...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.09.016
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:The objective of this study was to evaluate the effects of allergic rhinitis (AR) on the development, progression, and recovery of acute otitis media (OM) in an animal model and investigate the secondary effects of bacterial infection. METHODS:BALB/c mice were divided into four groups: AR + OM, AR, OM, and ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110497
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Nearly 90-95% of children with drool have physiologic gastroesophageal reflux (GER) that usually resolves by 12-15 months of age; however, 5-10% of children with drool have pathologic GER. Of these children, most recover clinically by 18 months of age without therapy, yet 10% develop chronic, recurrent gastr...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2007.07.004
更新日期:2007-11-01 00:00:00
abstract:INTRODUCTION:Adenotonsillectomy remains the accepted first-line treatment for obstructive sleep apnea syndrome (OSAS) in children. Tonsillar size may be especially relevant in risk stratification as it may impact symptoms of sleep disordered breathing (SDB). This study assesses correlations among subjective tonsillar g...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.10.001
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:Review the evaluation of children with a deep lateral neck infection and define the impact of initial imaging modality on outcomes and costs. METHOD:Case series, pediatric patients <18 years of age admitted to a tertiary care hospital with lateral neck infection between 01/01/14-05/31/16 as identified by ICD...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.04.001
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:This study aimed to assess the static balance function in deaf adolescents with cochlear implants. METHODS:We included 24 adolescents who had received unilateral cochlear implantation for at least 5 years. Each subject underwent stabilometry testing under 4 different conditions: (A) firm surface with eyes op...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.02.019
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:Permanent childhood hearing impairment often results in speech and language problems that are already apparent in early childhood. Past studies show a clear link between language skills and the child's social-emotional functioning. The aim of this study was to examine the level of language and communication s...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.10.008
更新日期:2015-12-01 00:00:00
abstract::Monitoring the effects of Hearing Loss on Quality of Life, which is frequently seen on children and causes inefficiency in speech, education, and social development, is not only important for listening skills, using hearing devices, and linguistic and speech skills but also important for the treatment. And, if no trea...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.109813
更新日期:2020-03-01 00:00:00
abstract::Fifty-five cases of acute epiglottitis were diagnosed and treated at the Children's Hospital of Philadelphia between 1985 and 1991. To evaluate the changing patterns of the disease over recent years, we compared the current results with those obtained from an earlier study reported at our institution in 1979. The over...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(93)90049-9
更新日期:1993-01-01 00:00:00
abstract::Posterior glottic stenosis (PGS) describes a laryngeal disorder in which worsening degrees of scarring limit abduction of the vocal folds and/or arytenoids. It can be congenital or acquired. Generally, the acquired form is the result of chronic endotracheal tube trauma to the posterior larynx. Symptoms of acquired PGS...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2018.07.025
更新日期:2018-11-01 00:00:00
abstract::Tracheal agenesis is a rare and uniformly lethal congenital malformation. It presents with severe respiratory distress at birth. In this anomaly there is a congenital absence of the trachea and the bronchus communicates with the esophagus. The diagnosis should be suspected in newborn infant with respiratory distress w...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.08.023
更新日期:2006-04-01 00:00:00
abstract:INTRODUCTION:The past decade has been witness to significant diminution in incision size and placement for pediatric cochlear implantation at our institution. Furthermore, the orientation of the long axis of the implant relative to the skull base plane has generally evolved from a retro-verted to ante-verted direction ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.04.032
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:To analyze spontaneous nystagmus recorded in pediatric patients and determine its diagnostic value. MATERIALS AND METHODS:Retrospective review of 86 patients (mean age = 13.9 ± 4.7 years) with definitive spontaneous nystagmus recorded by videonystagmography (VNG). Spontaneous nystagmus was categorized and an...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.06.007
更新日期:2018-08-01 00:00:00
abstract::During 1991-1999, in the Children's ENT Department of Warsaw Medical University, 39 polypectomies were performed. We analysed the histological structure of all polyps. The most common type of nasal polyp tissue in children was the inflammatory polyp (95% of cases). ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00508-0
更新日期:2001-08-20 00:00:00
abstract::Rhinosinusitis is a disease that has attracted increasing attention both in terms of triggering factors and of treatment evolution, with its possible complications and repercussions. Follow-up of chronic cases almost always requires imaging evaluation and computed tomography (CT) has been considered the 'gold standard...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 临床试验,杂志文章
doi:10.1016/s0165-5876(00)00357-8
更新日期:2000-09-15 00:00:00
abstract::Mobius syndrome was originally described as bilateral 6th and 7th cranial nerve palsy and has since been expanded to include involvement of nearly all cranial nerves, limb deformities, orofacial anomalies and deficits in intellectual function. The etiology of Mobius syndrome remains elusive. Here we present a case wit...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.09.013
更新日期:2006-05-01 00:00:00
abstract:OBJECTIVES:Nasal dilators are being developed for the purpose of increasing air flow in the nasal valve. The aim of this study is to evaluate the use of the internal nasal dilator (IND) by adolescent athletes. METHODS:A double-blind, crossover clinical trial in which we evaluated 54 adolescents using experimental and ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2016.02.023
更新日期:2016-05-01 00:00:00
abstract:OBJECTIVE:Two potent mediators of acute inflammation, histamine and leukotriene B4 (LTB4), have been shown to play important roles in the pathogenesis and clinical course of acute otitis media (AOM) in children. The purpose of this study was to evaluate the ability of adjuvant drugs, antihistamine and corticosteroid, i...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0165-5876(02)00372-5
更新日期:2003-03-01 00:00:00
abstract:INTRODUCTION:Children with tracheostomies are medically complex and may be discharged with limited and variably trained home nursing support. When faced with emergencies at home, caregivers must often take the lead role in management, and many lack experience with troubleshooting these emergencies prior to initial disc...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.01.020
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:To assess outcome in pediatric patients after treatment for retraction pockets of pars tensa in relation to retraction grade, site, occurrence of complications, and patient age. METHODS:Outcomes in 45 ears of 37 children medically or surgically treated for retraction pockets were compared to a control group ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.11.004
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Although the estimated incidence and prevalence of juvenile-onset recurrent respiratory papillomatosis (JORRP) has been determined in countries in North America and Europe and in Australia, no studies have attempted to determine the incidence or prevalence of JORRP in African countries. The aim...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.09.017
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVES:Referential communication (RC) is a key element in achieving a successful communication. This case series aimed to evaluate RC in children with unilateral cochlear implants (CIs) with formal language skills within the normal range. METHODS AND MATERIALS:A total of 31 children with CIs, with language develop...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.02.003
更新日期:2015-04-01 00:00:00
abstract::The commonest subglottic mass in infants is a congenital haemangioma, which is usually managed conservatively without a histological diagnosis. Ectopic cervical thymus is rare and usually presents as a cervical mass, with only one case of subglottic ectopic thymus reported to date. Due to its rarity, the diagnosis in ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.11.022
更新日期:2005-04-01 00:00:00
abstract::We report the case of a 14-year-old girl with a large vestibular aqueduct (LVA) in whom hyperbaric oxygen (HBO) therapy was effective for the treatment of sensorineural hearing loss. The patient was referred to Nagoya University Hospital for the treatment of hearing loss on 14 September, 1998, because her right hearin...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(99)00258-x
更新日期:1999-12-15 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::Nager's acrofacial dysostosis is a rare congenital anomaly in which mandibulofacial dysostosis is seen in combination with limb deformities, particularly hypoplasia of the radial aspect of the hand. A boy with a severe manifestation of this syndrome is presented. Deformities include severe bilateral mandibular hypopla...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/0165-5876(90)90353-s
更新日期:1990-12-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to evaluate whether the arithmetic achievement of children with cochlear implants (CI) was lower or comparable to that of their normal hearing peers and to identify predictors of arithmetic achievement in children with CI. In particular we related the arithmetic achievement o...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.04.038
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung dise...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.03.016
更新日期:2017-05-01 00:00:00
abstract::Thirty-eight hydrocephalic children (mean age 11.5 years; range 5.1-17.9) were examined on average 7.9 years after initial shunting. The etiology of the hydrocephalus was divided into 5 groups: perinatal intraventricular hemorrhage 14, congenital obstructive hydrocephalus 14, central nervous system infections 4, intra...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(92)90077-3
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:To identify the perception of the train passengers about the cause and the management of hearing loss. METHODOLOGY:A total of 115 passengers, 90 males and 25 females, in the age range of 13-80 years (mean: 39.19, standard deviation: 15.4) years. RESULTS:From the survey, it is found that most of the particip...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2012.04.014
更新日期:2012-08-01 00:00:00