Abstract:
OBJECTIVE:The aim of this study was to analyze HRCT and MRI findings in patients with X-linked non-syndromic deafness and a POU3f4 mutation. METHODS:HRCT and MRI data of four patients (males, 2-19 years old) with a POU3f4 mutation were collected and a retrospective review was performed. Cochlea, internal auditory canal (IAC), vestibule, semicircular canals, vestibular aqueduct, nerve canals in the IAC fundus, stapes and cochlear nerve were evaluated on 2D images (multi-planner reformation, MPR) and cochlear foramen on 3D images (CT virtual endoscopy, CTVE). Ten cases with normal hearing subjected to CT and MR exams served as controls. RESULTS:Inner ear malformations were bilateral and symmetrical. Cochlear malformation was shown to consist of as a relatively normal outer coat shape, absence of a cochlear modilous, and a direct intercommunication between the IAC and cochlear inner cavity. The lateral portion of the IAC was dilated. A spiral cochlear inner cavity was observed with CTVE images versus a helical cochlear nerve foramen as seen in controls. The labyrinthine facial nerve canal and superior vestibular nerve canal were enlarged. The Bill's bar was hypertrophic and partially pneumatized. A thickened stapes footplate was present and a fissura ante fenestram was absent in seven ears examined. A column shaped stapes was observed in one ear. CONCLUSIONS:The absence of a cochlear modilous with a dilated lateral IAC and thickened stapes footplate were the remarkable features observed with imaging these in X-linked non-syndromic deafness patients with a POU3F4 mutation. Preoperative recognition of the image features in these patients is important because it precludes stapedectomy and indicates the risks in the surgery of cochlear implantation including CSF gusher and electrode insertion into IAC.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Gong WX,Gong RZ,Zhao Bdoi
10.1016/j.ijporl.2014.08.013subject
Has Abstractpub_date
2014-10-01 00:00:00pages
1756-62issue
10eissn
0165-5876issn
1872-8464pii
S0165-5876(14)00457-1journal_volume
78pub_type
杂志文章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
abstract:OBJECTIVES:Our objective was to determine if there are differences in caregiver perception of speech for patients that undergo frenulectomy compared to patients that were not surgically treated. INTRODUCTION:Ankyloglossia is a controversial topic without standardized treatment guidelines. Although there have been seve...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.01.019
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND:Chronic otitis media (COM) is one of the most common childhood diseases. Its pathophysiology is complex and multifactorial. The role of specific mucin glycoprotein subtypes in OM is only recently being elucidated. OBJECTIVE:To determine the relationship between middle ear fluid mucins and clinical variables...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.09.009
更新日期:2016-11-01 00:00:00
abstract::Primary chondroid tumors of the larynx constitute less than 1% of all laryngeal tumors and are usually prevalent in adults. Relevant English literature presents only two pediatric laryngeal chondroma cases. In this paper, a novel pediatric case of laryngeal chondroma presenting as an external laryngeal mass is reporte...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.07.005
更新日期:2004-12-01 00:00:00
abstract::Clinically relevant cartilaginous subglottic stenosis was found in 2 patients with Shwachman-Diamond syndrome (SDS) for which tracheotomy was required in one case. Considering the pathogenesis of SDS, including deficient chondrogenesis, we hypothesise that subglottic stenosis may be a rare symptom of SDS. Otorhinolary...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2012.06.030
更新日期:2012-10-01 00:00:00
abstract::Primary crycopharyngeal achalasia consists of a failure of the crycopharyngeus muscle to relax at the appropriate time during the swallowing process in the abscence of other motor abnormalities. The principle treatment options for cricopharyngeal achalasia include either dilatation of the upper esophagus or surgical m...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2006.08.012
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVES:To describe long-term clinical outcomes of cochlear implantation in deaf children with symptomatic epilepsy. MATERIALS AND METHODS:A retrospective data analysis review of patients implanted at the Cochlear Implant Center of the University of Parma, Italy, was performed, searching for implanted children with...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.12.021
更新日期:2016-03-01 00:00:00
abstract::A conferred cross-protection between Haemophilus influenzae type b (Hib) and nontypeable H. influenzae (NTHi) was demonstrated in a previous study of experimental recurrent otitis media. To explore cross-protection further, and to compare oral administration of whole cells with two more conventional routes for vaccina...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(96)01474-7
更新日期:1997-03-06 00:00:00
abstract:BACKGROUND:Group A Streptococcus (GAS) is the most important bacterial cause of acute tonsillitis in children. Some children are chronic GAS carriers, and this carriage is poorly understood. We determined the frequency of GAS detection using a rapid antigen detection test in pediatric patients with indications for tons...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.03.044
更新日期:2016-07-01 00:00:00
abstract::Formalin-fixed, paraffin-embedded and frozen tissues of 24 patients with primary nasopharyngeal angiofibroma, of whom seven had recurrences, were studied immunohistochemically for the expression of CD34 antigen using two different antibodies (HPCA-1 and QBEND 10). In all cases, there was an exclusive staining of endot...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(98)00072-x
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the long term results of treatment and rehabilitation of childhood dysphonia. METHODS:This study included a group of adolescents (n=29) aged from 15 to 20 who were treated due to pediatric hyperfunctional dysphonia and soft vocal fold nodules during their pre-mutational pe...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.02.002
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To define the gene expression patterns during the early phases of a bacterial middle ear infection in the rat model. METHOD:Using cDNA gene array technology, we profiled the mRNA expression of 1176 genes in a rat model of acute otitis media. We identified changes in gene expression two-fold or greater 12 and...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.03.033
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVE:Retropharyngeal lymphatic malformations (LMs) are uncommon congenital anomalies. Open surgery, sclerotherapy and various pharmaceutical agents have been described to manage these lesions. However, when such lesions involve the retropharyngeal space with evidence of airway compromise, none of the above aforeme...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110074
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND:Velopharyngeal insufficiency (VPI) occurs when the velopharyngeal sphincter (VPS) is unable to completely seal anatomical closure between the nasal and oral cavities during speech. Palatal repair can restore VPS function but the prevalence of VPI after repair has been reported ranging from 20% to 40%. The co...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.02.022
更新日期:2019-05-01 00:00:00
abstract::The pediatric otolaryngologist has an especially important role in the differential diagnosis and treatment of two voice disorders; these are the voice quality problems (dysphony) and the resonance problems (rhinophony). The first step in the examination is to preclude the organic causes. The functional dysphonia is m...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(94)01149-r
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVES:Evaluate the prevalence of middle ear disease in infants failing a newborn hearing screening program. Review the outcomes of those infants diagnosed with or without middle ear disease after failed hearing screen. DESIGN:Retrospective chart review of 76 patients referred to a tertiary care institution for ev...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.11.006
更新日期:2005-03-01 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:OBJECTIVE:To investigate whether the effects of sex (male/female) that have been demonstrated in the pathology literature using 0.1 mm histopathologic slices are measurable and statistically significant using high-resolution (0.625 mm slice) computed tomography (CT). METHODS:IRB-approved retrospective analysis of high...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.04.013
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVE:Electrical stimulation by a cochlear implant (CI) induces maturation of the auditory system and reorganization of the auditory cortex in deaf children. Cortical reorganization produces an interhemispheric asymmetry in auditory evoked brain potentials associated with sound stimulation after unilateral implanta...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2012.08.011
更新日期:2012-12-01 00:00:00
abstract:AIMS:Acute otitis media (AOM) is one of the most frequent diagnoses and reasons for prescribing antibiotics in children. The aims of this prospective study were the following: (1) to assess the continuing education of physicians and the sources of information about AOM; (2) to assess the current knowledge of and attitu...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.02.004
更新日期:2013-05-01 00:00:00
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
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.03.005
更新日期:2011-06-01 00:00:00
abstract::A 5 year-old boy aspirated a metal spring accidentally. The right bronchial foreign body was removed by threading the alligator of a biopsy forceps through the lumen of the spring while opening its jaws distally. This case illustrates that a foreign body with a central lumen in a child can be successfully removed usin...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00622-x
更新日期:2002-02-25 00:00:00
abstract:BACKGROUND:Very few assessment measures exist for evaluating progress in young deaf children with hearing aids and cochlear implants. OBJECTIVE:To introduce and describe an early assessment package that covers auditory perception, communication/language development, and speech production in very young deaf children. ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.08.016
更新日期:2005-02-01 00:00:00
abstract:INTRODUCTION:Approximately 60% of congenital pediatric hearing loss is of genetic etiology. To evaluate non-syndromic sensorineural hearing loss (NSSNHL), guidelines emphasize the use of comprehensive genetic testing (CGT) with next generation sequencing (NGS), yet these tests have limited accessibility, and potential ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.05.038
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVES:Identify risk factors and determine perioperative sequelae of children undergoing lateral cervical abscess incision and drainage. METHODS:Pediatric patients who underwent lateral cervical abscess incision and drainage aged 1-18 years were retrospectively queried via ACS-NSQIP-P (2012-2016) utilizing CPT cod...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.109889
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To search for predictive factors for language development measured by two receptive language tests for children, the Galker test (a word-recognition-in-noise test) testing hearing and vocabulary, and the Danish version of Reynell Developmental Language Scale (2nd revision, RDLS II) test, a language comprehens...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.03.036
更新日期:2018-06-01 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:While tracheal resection for management of tracheal stenosis is an effective technique that has been well described in adults, the results in children have been less encouraging, as children tolerate anastomotic tension less well than adults. We describe our current technique for the management of severe trac...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2003.08.054
更新日期:2004-01-01 00:00:00
abstract::Debate continues concerning proper management of peritonsillar abscess (PA). We studied 189 children (mean age, 9 years) admitted in our department during the last 7 years with the diagnosis of PA. Management consisted of incision and drainage (performed in 92.5% of the children without general anaesthesia) and antibi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(94)01077-b
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVES:This study was performed to propose the proper surgical timing of infected preauricular sinus (PAS) by comparing surgical results of active infection PAS group (AIPASG) to infection-controlled/or non-infected PAS group (IC/NIPASG). METHODS:Two hundred and twelve patients with PAS who underwent surgical exci...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110129
更新日期:2020-08-01 00:00:00