Abstract:
BACKGROUND:Recent studies have confirmed the utility of targeted next-generation sequencing (NGS), providing a remarkable opportunity to find variants in known disease genes, especially in genetically heterogeneous disorders such as hearing loss (HL). METHODS:After excluding mutations in the most common autosomal recessive non-syndromic HL (ARNSHL) genes via Sanger sequencing and genetic linkage analysis, we performed NGS in the proband an Iranian family with ARNSHL. The NimbleGen sequence capture array captures codingsequences (CDSs) and 100 bp of the flanking sequence of 129 common deafness genes (cat# Oto-DA3). NGSwas performed on the IlluminaHiSeq2000. BWA, SAMtools, Picard, GATK, Variant Tools, ANNOVAR, and IGV were applied for Bioinformatics analyses. Data filtering with allele frequencies (<5% in the 1000 Genomes Project and 5400 NHLBI exomes) and PolyPhen2/SIFTscores (>0.95) prioritized 1indel (insertions/deletions) and 3 missense variants in this family. Eventually, Sanger sequencing, segregation pattern, the frequency in 50 healthy matched normal controls, and evolutionary conservation of amino acid residues revealed the pathogenic variant. RESULTS:We identified a novel missenseGIPC3 mutation, c.472G > A (p.Glu158 Lys). The pathogenicity of GIPC3c.472G > A was supported by its absence in the population databases and the healthy-matched controls.Sanger sequencing confirmed co-segregation of the mutation with HL. CONCLUSIONS:This study is the first report of the contribution of theGIPC3 gene to HL in the Iranian population.Targeted NGS allows easier detection of mutations in relatively uncommon deafness genes in families with ARNSHL.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Asgharzade S,Tabatabaiefar MA,Mohammadi-Asl J,Chaleshtori MHdoi
10.1016/j.ijporl.2018.01.006subject
Has Abstractpub_date
2018-05-01 00:00:00pages
8-11eissn
0165-5876issn
1872-8464pii
S0165-5876(18)30022-3journal_volume
108pub_type
杂志文章abstract::Hemifacial spasm is a condition consisting of unilateral paroxysmal involuntary contractions of the muscles innervated by the facial nerve. The most common etiology is a vascular loop compression at the root exit zone of the nerve. We present here a first reported case of hemifacial spasm associated with otitis media ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.09.027
更新日期:2006-05-01 00:00:00
abstract:OBJECTIVE:CHARGE syndrome is a heterogeneous genetic disorder comprising multiple congenital anomalies. Major clinical diagnostic criteria include ocular coloboma, choanal atresia/stenosis, characteristic ear abnormalities, and cranial nerve abnormalities. CHARGE syndrome is caused by a mutation in the gene CHD7 locate...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.10.005
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:This study aimed to explore and make an understanding of absorption existed in children with intracapsular fractures. METHODS:The sample was composed of all children (less than 12 years) who presented with intracapsular fractures within a 5-year period (January 2011 to April 2016). Data about age, gender, da...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.05.013
更新日期:2019-08-01 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:OBJECTIVES:To present a series of acquired bilateral adductor laryngeal paralysis (BAdLP) and review the literature on clinical manifestations and management. METHODS:A retrospective review of a single tertiary care practice of pediatric otolaryngology was conducted. Patients were identified from a surgical database s...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2014.08.012
更新日期:2014-11-01 00:00:00
abstract::Inferior dacryocystorhinostomy is a simple and effective method in the treatment of such cases of congenital dacryostenosis in which conservative treatment and probing have failed and in which the atresia is located at the level of the nasolacrimal duct. The operative technique is described in detail. The series treat...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(82)90040-4
更新日期:1982-10-01 00:00:00
abstract:PURPOSE:To describe the surgical technique and outcome in a series of patients who underwent revision cochlear implantation using a double array or split electrode device. All patients developed ossified cochleae due to meningitis and were functioning poorly with the previous implant. METHODS:Four patients between the...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110446
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:This study evaluated disease severity of children referred to a pediatric otolaryngology practice with a diagnosis of otitis media (OM) before and after tympanostomy tube (TT) placement. METHODS:A retrospective review was conducted of patients referred to a pediatric otolaryngology practice from January 2000...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.07.001
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:In this study, auditory brainstem potentials (ABPs) were studied in children with protein energy malnutrition (PEM) to determine the effects of PEM on the developing brain in children. METHODS:A total of 31 children, aged 3-36 months with moderate/severe PEM and 25 healthy children, aged 3-48 months were inc...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.01.034
更新日期:2005-07-01 00:00:00
abstract::Lacrimal pathway stenoses in pediatric patients are uncommon after the age of 1 year. Various conservative treatments (massages, hot compresses, topical antibiotics, probing and intubation of the lacrimal pathways) are generally used to resolve these disorders. When non-invasive procedures fail, dacryocystorhinostomy ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(03)00188-5
更新日期:2003-10-01 00:00:00
abstract:AIM:The current study aims to assess: (a) the prevalence of auditory processing in a population of children reporting learning difficulties, (b) the correlation of APD diagnosis with age, the intelligence coefficient (IQ) and with the presence of a specific learning disability such as dyslexia and (c) to evaluate the r...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.04.004
更新日期:2009-07-01 00:00:00
abstract:INTRODUCTION:The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patient...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.12.008
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:This study aimed to investigate the characteristics of the wideband absorbance (WBA) of acoustic energy in children (3-7 years old) with otitis media with effusion (OME) under environmental ear-canal air pressure and tympanometric peak pressure and to determine the diagnostic value of the acoustic energy abso...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110496
更新日期:2021-01-01 00:00:00
abstract:INTRODUCTION:Cisplatin is a widely used anticancer chemotherapeutic agent. However, it is notorious for its ototoxicity and nephrotoxicity due to induction of reactive oxygen species (ROS). Caffeic acid is a naturally occurring polyphenol present in honey that is known to reduce the generation of oxygen-derived free ra...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.10.013
更新日期:2014-12-01 00:00:00
abstract::Pertaining to non-organic hearing loss in children, three goals should be attained: detection of this disease, determination of true hearing levels and information about the possible cause. Recently, objective tests have been used principally for children with non-organic hearing loss; however, these lack the simplici...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(98)00069-x
更新日期:1999-01-25 00:00:00
abstract:OBJECTIVES:The main objective was to examine the effect of central maturation on the auditory temporal resolution in a group of school-age children using Gaps-In-Noise test. METHODS:The study involved 180 children (6-16 years) with normal hearing, average intelligence and language skills, and adequate scholastic achie...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.04.010
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to assess the feasibility of implementing an outpatient model of a newborn hearing screening program with a particular focus on determining how compliance with the follow-up appointment related to specific socio-economic and demographic factors associated with the mother. METHOD...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.09.002
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:Qualitative research methods explore the character and meaning of human phenomena. The methodology is unfamiliar to most clinicians, not only because of the different techniques and the type of studied issues, but also because of important differences regarding terminology and criteria for evaluating qualitat...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(99)00248-7
更新日期:1999-11-15 00:00:00
abstract::A prospective single-blinded study was conducted to compare pediatric tonsillectomy using the traditional cold sharp dissection with ligation for securing hemostasis (CSDL) versus microsurgical bipolar dissection technique (MBCT). Sixty children aged between 2 and 14 years were sequentially assigned to each group. Blo...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 临床试验,杂志文章
doi:10.1016/s0165-5876(97)00099-2
更新日期:1997-09-18 00:00:00
abstract:INTRODUCTION:The use of honey in wound care is becoming more common due to the proven benefit in all three phases of wound healing, as well as the antibacterial and antibiofilm properties. We present our experience using TheraHoney gel, a medical grade honey, for the successful treatment of cochlear implant associated ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.05.026
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:A reduced transversal dimension of the maxilla leads to narrower nasal cavities, which may reduce airflow to the lungs. Maxillary expansion widens nasal floor. However, there is huge controversy regarding whether this increase does actually lead to increased airflow. In this systematic review and meta-analysi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,meta分析
doi:10.1016/j.ijporl.2020.110139
更新日期:2020-08-01 00:00:00
abstract::We report a case of worsening respiratory distress associated with opisthotonus secondary to tracheomalacia, a rather unique pathophysiological phenomenon. A 2-month-old male baby was referred to our hospital for respiratory distress syndrome with a noticeable opisthotonus. Examination and investigation confirmed the ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.05.024
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:Two cases of first branchial cleft fistula with internal opening on the Eustachian tube are reported and the diagnosis, management and embryological hypothesis are discussed. DESIGN:Retrospective study and review of the literature. RESULTS:Both patients were young boys with first branchial cleft anomaly cle...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2012.01.028
更新日期:2012-05-01 00:00:00
abstract::Failure of decannulation after paediatric tracheostomy, once the underlying disorder has resolved, is almost always due to peristomal complications. Granulation tissue formation in the raw tissue of the stoma and its subsequent fibrosis requires removal (50 of the 293 tracheostomies from the Red Cross War Memorial Chi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(92)90050-y
更新日期:1992-03-01 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:Children with cleft lip and palate universally present with otitis media with effusion. This prevalence has not been systematically studied. The purpose of the present study was to examine and compare the prevalence of otitis media with effusion, hearing sensitivity, and audiometry method utilised for assess...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.07.015
更新日期:2009-10-01 00:00:00
abstract::Sixty nine pediatric patients with cystic lesions of the jaws were successfully diagnosed and treated. Thirty one (45%) were dentigerous cysts (D.C.), 15 (22%) were eruption cysts (E.C.), 12 (17.3%) were traumatic bone cysts (T.B.C.), nine (13.3%) were radicular cysts (R.C.), one (1.5%) was primordial cyst (P.C.) and ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00583-3
更新日期:2002-01-11 00:00:00
abstract::This case report describes a case of severe hemorrhagic tonsillitis in a nine month-old child who suffered significant amount of blood loss and was emergently taken to operating room for control of hemorrhage. The child was brought to emergency room by mom after noticing blood around child's mouth and nose and a subse...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110190
更新日期:2020-09-01 00:00:00
abstract:INTRODUCTION:Tele-diagnostic audiological testing in a hearing screening program for infants and young children is a novel practice, and this study is the first to explore its application in a rural community. It is important to understand parental perceptions and confidence when introducing a new process such as tele-...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.07.028
更新日期:2016-10-01 00:00:00
abstract::A case of cerebral venous infarction (CVI) as a complication of acute otitis media (AOM) was presented in a 16-month-old male patient. The patient admitted with AOM in the right ear, ipsilateral facial paralysis and contralateral hemiplegia. Computerized tomography of the brain showed low density areas involving both ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(03)00181-2
更新日期:2003-09-01 00:00:00