Abstract:
:Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lower frequency. Although several studies have indicated that a large proportion of both syndromic and non-syndromic hearing loss in Iranian populations are caused by defects in just a few genes, new detection strategies such as NGS (Next-generation sequencing) have increased the spectrum of responsible mutations. However, by applying this technique in Iran patients screening, the role of lots of novel related genes have been reported. In this review, we aim to describe function of these genes and their contribution to non-syndromic genetic hearing loss in Iranian population and we classify the genes by their functions.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Ghasemnejad T,Shekari Khaniani M,Zarei F,Farbodnia M,Mansoori Derakhshan Sdoi
10.1016/j.ijporl.2017.04.007subject
Has Abstractpub_date
2017-06-01 00:00:00pages
113-126eissn
0165-5876issn
1872-8464pii
S0165-5876(17)30148-9journal_volume
97pub_type
杂志文章,评审abstract:OBJECTIVES:Children undergoing tracheotomy represent a medically vulnerable patient population, and understanding the reasons for revisiting the hospital setting following tracheotomy is critical for improving the quality of care for these patients. This study aims to investigate the incidence and characteristics of re...
journal_title:International journal of pediatric otorhinolaryngology
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abstract:OBJECTIVE:To investigate and compare the effectiveness of preincisional peritonsillar infiltration of ketamine and tramadol for post-operative pain on children following adenotonsillectomy. STUDY DESIGN:Prospective randomized double blind controlled study. METHODS:Seventy-five children aged 3-10 years undergoing aden...
journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:Management of children with unilateral hearing loss is not standardized. The primary goal of this study was to elicit patient- and parent-reported perspectives regarding usage of hearing devices in pediatric UHL and to suggest a basic algorithmic approach to management. METHODS:Our tertiary care center recru...
journal_title:International journal of pediatric otorhinolaryngology
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abstract::Hyper Immunoglobulin E Syndrome, or Job's Syndrome, is a rare multisystem disorder that classically presents in early childhood with a triad of clinical manifestations that include severe eczematous dermatitis, recurrent infections (skin and lung), and elevated serum immunoglobulin E. Hyper Immunoglobulin E Syndrome i...
journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/j.ijporl.2011.03.005
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abstract:OBJECTIVE:Craniofacial malformations comprise diverse diagnoses, implying a wide range of morbidity and disability among populations. Our aim was to study them as a group and describe their epidemiological factors inside a population as well as finding common risk factors for their presentation in Colombia. METHODS:We...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.07.012
更新日期:2009-10-01 00:00:00
abstract::Laryngeal mucous cysts are rare congenital malformations of the upper aero-digestive tract. We report one case of a ductal cyst developed in the supraglottic area. The diagnosis of an antenatal malformation was suspected on the basis of a hydramnios development during pregnancy. Ultrasound scan showed a cervical anech...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2007.06.020
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abstract:OBJECTIVE:This is a study of whether there are any long-term differences in academic achievements between children with and without observed or treated middle ear disease in a population with a stable long-standing treatment policy. METHODS:A birth cohort of 2156 children was previously studied through a questionnaire...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(00)00431-6
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVES:To assess prevalence and risk factors of tinnitus reported by 7- and 12-year-old children from primary schools in Warsaw. A secondary objective was to test the relationship between hearing loss and tinnitus prevalence. METHODS:Observational cross-sectional study of 15,199 students aged 7 and 12 years (66.9%...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.06.008
更新日期:2015-08-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
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doi:10.1016/j.ijporl.2014.02.026
更新日期:2014-05-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.07.023
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:Determine clinical signs or symptoms associated with a more complicated clinical course in patients with retropharyngeal abscesses (RPAs). DESIGN:Retrospective chart review at a tertiary care level Children's hospital. Main Outcome Measures Age, presenting signs and symptoms, laboratory tests, imaging result...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.11.010
更新日期:2010-02-01 00:00:00
abstract::The advent of rigid paediatric nasal endoscopy has revolutionised management of congenital choanal atresia. We believe that the endoscopic endonasal approach is a simple, safe and reliable procedure that can be employed in the management of bilateral choanal atresia in the newborn. We present here a case of bilateral ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/s0165-5876(96)01408-5
更新日期:1996-12-05 00:00:00
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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:OBJECTIVE:To determine whether the lack of private health insurance places children at increased risk for foreign body ingestion or aspiration. DESIGN:Retrospective review. SETTING:St. Louis Children's Hospital, a tertiary care center. PATIENTS:Consecutive sample of 125 patients with esophageal or airway foreign bod...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(97)00111-0
更新日期:1997-10-18 00:00:00
abstract::Lateral sinus thrombosis (LST) occurs when a middle ear infection disseminates directly via bone erosion or disseminates indirectly through the venous networks. The petrosquamosal sinus (PSS) is the residual accessory dural sinus connecting intracranial to extracranial drainage. This report describes a case of a patie...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2013.08.034
更新日期:2013-11-01 00:00:00
abstract::The aim of this paper was to verify if the growth of the nasomaxillary complex can be influenced by a purely functional alteration such as nasal obstruction, which was induced experimentally in a genetically controlled animal model. Sixty albino rats were employed. Twenty of them had the right nostril occluded by a sy...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(98)00049-4
更新日期:1998-10-02 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
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更新日期:2021-01-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.11.021
更新日期:2012-02-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2003.08.015
更新日期:2003-12-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.01.009
更新日期:2009-05-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2019-11-01 00:00:00
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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
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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
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00543-2
更新日期:2001-10-19 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(98)00005-6
更新日期:1998-05-15 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
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更新日期:2001-05-31 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2019-08-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
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更新日期:2016-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-04-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.06.029
更新日期:2018-09-01 00:00:00