Abstract:
OBJECTIVE:Mutations in the GJB2 gene has been reported as a main cause for autosomal recessive non-syndromic hearing loss (ARNSHL) all over the world. IVS1+1G>A which is splice site mutation have been detected in several populations as disruptive mutation. This study has intended to assess the significance of this mutation, IVS1+1G>A, to the autosomal recessive non-syndromic genetic load among Iranian Azeri Turkish patients. METHODS:Following our previous study, one hundred and seventy four unrelated patients with prelingual ARNSL were included in this study. Thirty nine patients had only one identified mutated allele, whereas hundred and thirty five patients were negative for coding region of GJB2. All these patients were screened for IVS1+1G>A by applying PCR-RFLP assay. RESULTS:Among studied patients nine compound heterozygote with 35delG, delE120, 235delC were identified. Additionally, six patients were detected with only one IVS1+1G>A mutated allele. In these patients, the other mutated allele was left unidentified. One patient was identified to be homozygous for IVS1+1G>A. Further studies carried out on parents of positive cases, showed that one of the healthy parents (mother) to be homozygous for IVS1+1G>A mutation. By self-report, this person had no hearing impairment, although it is possible that she has mild or moderate hearing loss, which she is unable to detect. Her child was compound heterozygous (IVS1+1G>A/35delG) with profound deafness. The frequency of IVS1+1G>A was found to be about 4.9%, however the parental consanguinity was observed in 37.5% of IVS1+1G>A-mutated families. CONCLUSIONS:Our results support founder effect regarding these mutations and the presence of an ancient ancestor is strengthened in comparison to hot spot hypothesis. Also the results suggest variable expressivity of IVS1+1G>A mutation with respect to hearing loss.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Bonyadi M,Fotouhi N,Esmaeili Mdoi
10.1016/j.ijporl.2011.09.024subject
Has Abstractpub_date
2011-12-01 00:00:00pages
1612-5issue
12eissn
0165-5876issn
1872-8464pii
S0165-5876(11)00474-5journal_volume
75pub_type
杂志文章abstract::The formation of tracheal 'granuloma' in the tracheostomized infant, as a cause of aphonia and an obstacle to decannulation has long been recognized. Endobronchial or transtomal removal has been recommended; however, a number of these lesions were resected in conjunction with complete tracheostomy revision and found t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(87)90008-5
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVES:To study the growth and size of the sphenoid sinuses in choanal atresia patients. STUDY DESIGN:Case-control single blinded retrospective study. METHODS:Fifteen non-syndromic patients (ages 0-26 years old) were selected because they had at least one suitable CT scan (nine bilateral and 11 unilateral=total 2...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.09.031
更新日期:2009-12-01 00:00:00
abstract:OBJECTIVE:The purpose of this study is to compare the levels of depressive emotioning of adolescents with cochlear implants and the ones who have normal hearing. METHODS:For this purpose, Rosenberg Self-Esteem Scale is applied upon the study group which consists of 30 adolescents with cochlear implant between the ages...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.09.027
更新日期:2009-12-01 00:00:00
abstract:OBJECTIVE:To assess the changes in the facial attractiveness (FA) in two groups of cleft lip and palate patients with Class III malocclusions treated using LeFort I surgery or late maxillary protraction. MATERIALS AND METHODS:Standardized pre- and post-treatment photographs were taken of 32 patients (17 corrected by o...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2013.05.042
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVES:In many studies evaluating the effect of sequential bilateral cochlear implantation in congenitally deaf children, device use is not taken into account. In this study, however, device use was analyzed in relation to auditory brainstem maturation and speech recognition, which were measured in children with ea...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.05.003
更新日期:2016-07-01 00:00:00
abstract:RATIONALE:In children with thick cortical bone, surgical exposure for cochlear implant fixation is difficult when using a minimal access technique. We report our experience in these children using the Mitek QuickAnchor system. METHODS:A retrospective review of all children undergoing cochlear implantation over a 12-mo...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.03.052
更新日期:2005-12-01 00:00:00
abstract::A 13-year-old male presents for evaluation of a right-sided posterolateral neck mass, first noted four years prior to presentation; incisional biopsy two years ago suggested a benign lymph node. Recent growth and increased pain prompted referral to our tertiary care center. MR imaging revealed a densely calcified mass...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.11.015
更新日期:2018-01-01 00:00:00
abstract::Transient facial palsy is a rare complication after adenotonsillectomy. In this study, we report two cases who developed unilateral peripheral facial palsy immediately after adenotonsillectomy. The facial palsy in both cases completely recovered in 6 and 3h respectively without any treatment. We assumed the possible m...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2012.05.001
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVES:Research has shown improvement in apnea-hypopnea index in children with mild obstructive sleep apnea treated with anti-inflammatory medications. Data on quality of life outcomes in children receiving these medications is lacking. We aim to assess quality of life in children with mild obstructive sleep apnea ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.06.027
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:The distribution of congenital neck masses varies between countries and is important in diagnosis and treatment modalities. Data from Africa is scarce, and altogether absent from Kenya. OBJECTIVE:To describe the pattern of congenital masses in a Kenyan paediatric population. SET UP: Kenyatta National Hospit...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.10.012
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:The main objective of the present study was to investigate subcortical auditory processing in children with sensorineural hearing loss. METHODS:Auditory Brainstem Responses (ABRs) were recorded using click and speech/da/stimuli. Twenty-five children, aged 6-14 years old, participated in the study: 13 with no...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.05.010
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVES:Early diagnosis of congenital hearing loss is fundamental to minimize the negative consequences on the speech development. To lower the age at diagnosis and at intervention in hearing impaired children, not only universal newborn hearing screening (NHS) but also tracking is considered essential. The aim of t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.01.035
更新日期:2018-04-01 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:OBJECTIVE:The question whether progressive sensorineural hearing loss during childhood is the fateful course of a main illness has been discussed controversially over 60 years. No medicamentous therapy with satisfactory results has been described in the literature. The goal of this study was to determine whether an inf...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(00)00455-9
更新日期:2001-02-01 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:OBJECTIVES:To demonstrate the effect of drug induced sleep endoscopy (DISE) on intra-operative decision making during pediatric sleep surgery for obstructive sleep apnea (OSA). METHODS:A retrospective chart review was performed on pediatric (3-17 years) patients with moderate-to-severe OSA (7.2-71.8) who underwent dru...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.109810
更新日期:2020-03-01 00:00:00
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::Accidental ingestion of foreign bodies by children is not an uncommon event. Now a day, with increasing accessibility of electronic toys and devices to the children, ingestion of miniature size batteries is on the rise [J. Am. Med. Assoc., 249, (1983), 2495]. Unlike the usual foreign bodies, ingestion of button alkali...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00624-3
更新日期:2002-03-15 00:00:00
abstract:OBJECTIVES:To evaluate the results of a newly introduced technique to our Department of endoscopic assisted transcanal myringoplasty applied in tympanic membrane perforation in children of any age and compare them to that of the previously standard microscopic assisted myringoplasty technique. METHODS:A retrospective ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.08.025
更新日期:2015-11-01 00:00:00
abstract:INTRODUCTION:Congenital anterior glottic stenosis (web) is a rare condition usually presenting with airway obstruction, stridor or dysphonia. Symptomatic infants may require tracheotomy to bridge the neonatal period. Early open surgical reconstruction may have significant risks and failure may still result in tracheoto...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.09.013
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVES:To study a possible impact of adenoidectomy on malocclusion on the base of cephalometry. METHODS:Retrospective analysis of 148 patients qualified into the orthodontic treatment (77 girls and 71 boys) at the age of 9-11 years (an average age: 10 years and 3 months). Material was divided into three groups, eq...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.10.001
更新日期:2009-12-01 00:00:00
abstract::Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the external ear anomalies found in this syndrome: short wide pinnae, often cupped and asymmetrical; distinctive triangular concha; discontinuity between the antihelix and antitragus; and 'snipped-off' portions of the helical ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(86)80071-4
更新日期:1986-12-01 00:00:00
abstract:INTRODUCTION:Preauricular lesions, including tags, pits, sinuses, and cysts are commonly seen. Some studies have shown increased incidence of hearing loss in these patients but other studies have failed to corroborate this finding. The purpose of this study is to evaluate the incidence of hearing loss in patients with ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.12.032
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVES:To assess Internet use and the influence of smartphones on health-information seeking by parents and carers of children with ENT conditions. METHODS:A paper-based questionnaire was circulated to parents attending otolaryngology services in both the out-patient and day-case settings at a tertiary referral ce...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.01.021
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVE:Quantify the rates influenza vaccination and RSV prophylaxis for children with airway stenosis and/or other disorders and assess impact on resource utilization. METHODS:This was a retrospective study with data extracted from Duke Enterprise Data Unified Content Explorer (DEDUCE) between January 1, 2006 and D...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.02.013
更新日期:2019-05-01 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::Hamartomas and teratomas are rare tumors in children. Its location in head and neck is quite exceptional. An unusual case of hamartoma in the middle ear is reported in a 5-month-old child. The tumor was isolated without associated malformation. Definitive diagnosis was made after surgery and based on histological resu...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(02)00376-2
更新日期:2003-03-01 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
abstract:OBJECTIVE:This study was carried out to determine the relationship between two screening tools to detect auditory processing disorders (APDs). The two screening tools were the screening checklist for auditory processing (SCAP) and screening test for auditory processing (STAP). METHOD:Four hundred school-going children...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2013.03.028
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:This study aims to assess the usefulness of the LittlEARS(®) Auditory Questionnaire (LEAQ) in determining the audiological development of Turkish children who have received a cochlear implant. METHODS:20 children received a cochlear implant before their 3rd birthday. Each child's progress was evaluated with ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.05.036
更新日期:2013-08-01 00:00:00