Abstract:
BACKGROUND AND AIM:Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations. METHODS:The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of inner ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA. None of the patients was diagnosed to have a recognizable genetic syndrome. Additional four patients with Pendred syndrome from three families were included. RESULTS:Only one patient with EVA was found to have a heterozygous mutation (c.1586delT) in SLC26A4. All patients with Pendred syndrome had homozygous mutations and were noted to have either EVA or EVA associated with incomplete partition-II on the computed tomography of the temporal bone. CONCLUSION:SLC26A4 mutations are not associated with a large spectrum of inner ear anomalies. They, instead, result in a specific morphological appearance consistent with EVA or incomplete partition-II.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Fitoz S,Sennaroğlu L,Incesulu A,Cengiz FB,Koç Y,Tekin Mdoi
10.1016/j.ijporl.2006.11.022subject
Has Abstractpub_date
2007-03-01 00:00:00pages
479-86issue
3eissn
0165-5876issn
1872-8464pii
S0165-5876(06)00493-9journal_volume
71pub_type
杂志文章abstract::Subglottic haemangioma is a rare but potentially life threatening condition which requires intervention. Many different treatments have been described with varying degrees of success and complications. Recently, successful treatment with propranolol has been reported in 11 cases of cutaneous haemangiomas and then in t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.08.020
更新日期:2009-12-01 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: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:OBJECTIVES:To determine if proximal fixation of the cochlear implant helps reduce the rate of straight electrode array extrusion/migration. METHODS:Records of 278 children implanted with a straight electrode at a tertiary pediatric hospital from 1990 to 2017 were reviewed. Demographics, operative reports, electrode ty...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.10.031
更新日期:2019-01-01 00:00:00
abstract::Salivary calculi in the pediatric population comprise only 3% of all cases of sialolithiasis. In addition, the presentation of bilateral calculi in children is rare. The formation of stones in the salivary glands has been attributed to slow salivary flow, salivary stagnation and unknown metabolic events. There is no r...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2004.11.015
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:To present a paediatric case of alveolar soft part sarcoma on the glabella. CASE:A 10-year-old female patient with a slowly growing painful and pruritic mass between her brows. During surgical excision of the mass, it was seen that the mass was firmly adherent to the periosteum. Extended surgical removal wit...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2003.11.023
更新日期:2004-05-01 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:OBJECTIVES:To evaluate the incidence of preauricular sinus, the association between preauricular sinus of a parent and their children, and the odds of hearing impairments in patients with preauricular sinus. METHODS:A cross-sectional study was performed using data from the Korea National Health and Nutrition Examinati...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.10.027
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:The high frequency of risk factors detected within the newborn population increases the total number of children that should receive regular follow-ups. However, in some circumstances, this could be beyond the capacity of the health system. Therefore, careful interpretation and selection of risk factors, and ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.10.052
更新日期:2014-02-01 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:OBJECTIVES:Pediatric tracheostomy is performed in a variety of complex, comorbid patients. Tracheostomy involves a significant burden of care for families and a risk of life-threatening complications. There is little research regarding the ideal location and protocol for safe tracheostomy decannulation. This study aims...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.109986
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVE:A prospective study was carried out to determine the sensitivity and specificity of reflux symptoms and laryngeal findings to diagnose laryngopharyngeal reflux (LPR) and gastro-esophageal reflux (GER) in children with asthma by comparing the results of double probe pH monitorization and to determine the diffe...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2012.11.021
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVES/HYPOTHESIS:To evaluate perioperative considerations and post-operative complications associated with parathyroidectomy in the pediatric population. METHODS:The Kids' Inpatient Database 21 (KID) was searched for patients who underwent parathyroidectomy in 2009 and 2012. Patient demographics, hospital stay, a...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.10.017
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to determine the relative frequency, demographic distribution and clinicopathological features of pediatric oral and maxillofacial cancer (POMC). METHODS:Medical records were retrospectively reviewed for all cancer cases diagnosed from 1986 to 2016 affecting patients aged 19 years an...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.109879
更新日期:2020-04-01 00:00:00
abstract::Numerous mechanisms have been suggested for the development of subglottic stenosis. This study sought serum antibody and cricoid cartilage immunohistologic evidence of an autoimmune process. The autoimmune hypothesis is that subglottic inflammation may extend into the cricoid cartilage, degrade the extracellular matri...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(96)01452-8
更新日期:1997-01-03 00:00:00
abstract:BACKGROUND:Prosody is the aspect of language that conveys emotion by changes in tone, rhythm, and emphasis during speech and the term specific language impairment (SLI) refers to children whose language development is substantially below their chronological age, despite a normal nonverbal intelligence and no obvious ne...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.11.001
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To describe temporal bone histopathology in an infant with partial trisomies of chromosomes 13 and 14. METHODS:Temporal bones were taken at autopsy from a 7-day-old neonate who has both partial trisomy 13 and partial trisomy 14. The right temporal bone was embedded in celloidin and sections were cut for micr...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.01.031
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of the recently published guidelines on Tonsillectomy in Children and Polysomnography for Sleep-Disordered Breathing Prior to Tonsillectomy in Children on physician practice patterns. STUDY DESIGN:Cross-sectional survey. METHOD:Survey of members of the American Academy of Otolaryngolo...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.12.035
更新日期:2014-03-01 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::This overview of the relationship between the nasopharyngeal tonsil and otitis media will review three important concepts: (1) Adenoid inflammation leads to inflammatory obstruction of the Eustachian tube; (2) early colonization of the adenoid with the three major bacterial pathogens of otitis media is the most import...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/s0165-5876(99)00146-9
更新日期:1999-10-05 00:00:00
abstract::In Malaysia 1,307 randomly selected primary school children were screened to find out the prevalence of hearing loss and middle ear disorders. Seventy-six students (5.81%) failed the screening audiometric test. There were 95 students (7.26%) with middle ear disorders. History of ear discharge was absent in 24 out of 5...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(91)90098-v
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVES:There are over 96 million people in the Philippines. Close to 77 thousand persons in this country have orofacial clefting. We estimate nearly 64 thousand are unrepaired. Unemployment and underemployment because of the communication disorders associated with unrepaired clefts will affect family income and hen...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.08.023
更新日期:2013-12-01 00:00:00
abstract::The aim of this study was to evaluate pro-apoptotic Bak expression in the germinal centers of adenoid in children on the assumption of the potential usefulness of Bak as adenoid function marker. The study involved 95 children undergoing adenoidectomy; divided into three age groups: aged up to 5 years (25 children), 5-...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2007.09.020
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disease, which primarily manifests with oto-sino-pulmonary symptoms. Otitis media with effusion (OME) is common from early childhood. The existing literature on OME management in PCD is conflicting. The goals of the present study were first...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.08.011
更新日期:2016-10-01 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:OBJECTIVES:Foreign body incorporation in children is often a serious situation. Attention deficit hyperactivity disorder (ADHD) could be a risk factor for self-insertion of foreign bodies. Large cohort analyses are missing. METHODS:This was a retrospective analysis of patients' records from a health insurance company ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.01.006
更新日期:2019-03-01 00:00:00
abstract::Acute hearing loss with or without tinnitus has been reported in a number of adult series of multiple sclerosis (MS), but is considered a rare phenomenon. It generally occurs during disease exacerbations, rather than as an isolated finding or presenting feature. We present the case of an 11-year-old girl in whom persi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.08.006
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVES:Tonsil and adenoid are part of waldeyers ring; the basic function of which are antibody formation, which later react against a grat variety of antigens. The Adenotonsillectomy is the most common operation in small children but the exact reasons of adenotonsillar hypertrophy remains unknown, some researches h...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.01.026
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To describe physician and parent behavior during pediatric otolaryngology surgical consultations, and to assess whether perceptions of shared decision-making and observed behavior are related. METHODS:Parents of 126 children less than 6-years of age who underwent consultation for adeontonsillectomy or tympan...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.05.031
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to translate and validate the LittlEARS Auditory Questionnaire (LEAQ) in Kannada. METHOD:The translation procedure followed a traditional translation, back translation, and content validity process before administering. The finalized version was administered on 87 children with 67 no...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110598
更新日期:2020-12-31 00:00:00