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 patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE:We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS. RESULTS:Case 1 is a 4-year-old boy with global developmental delay, esotropia, moderate aortic root dilation, genu valgum, and in-toeing gait. MRI brain for evaluation of neonatal hypotonia revealed a left cerebellopontine angle arachnoid cyst. He referred on newborn hearing screening, and diagnostic auditory brainstem response (ABR) showed left profound retrocochlear hearing loss. Surgical intervention for the arachnoid cyst was deferred, with spontaneous resolution at age two years without hearing recovery. CMA revealed a novel, de novo 5.1 Mb microdeletion of 22q13.31q13.33 not involving SHANK3, a gene typically deleted in PMS. Case 2 is a 6-year-old girl with some features also seen in patients with PMS but also several atypical features. She has a complex chromosomal rearrangement including a 5.3 Mb 22q13 microdeletion (not including SHANK3) and de novo 2.1 Mb gain of 22q11. CONCLUSION:As diagnostic sensitivity improves, smaller chromosomal imbalances will be detectable related to milder or different phenotypes. We present two patients with novel deletions of chromosome 22q13 associated with multiple congenital anomalies and features distinct from PMS.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Ha JF,Ahmad A,Lesperance MMdoi
10.1016/j.ijporl.2016.12.008subject
Has Abstractpub_date
2017-04-01 00:00:00pages
121-126eissn
0165-5876issn
1872-8464pii
S0165-5876(16)30444-Xjournal_volume
95pub_type
杂志文章abstract：OBJECTIVES:The current study aimed to compare the auditory interference control of participants with Learning Disability (LD) to a control group on two versions of an auditory Stroop task. METHODS:A group of eight children with LD (clinical group) and another group of eight typically developing children (control group...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.09.017
更新日期：2015-12-01 00:00:00
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 ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2006.11.022
更新日期：2007-03-01 00:00:00
abstract：:Bilateral tension pneumothorax complicating high-frequency jet injection ventilation during rigid open bronchoscopy for foreign body removal in a 3-year-old child is reported. Subcutaneous emphysema, bradycardia and low voltage of the QRS complex were the presenting symptoms. Disparition of heart dullness by percussio...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(84)80012-9
更新日期：1984-07-01 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:Inflammation and edema of the sinonasal mucosa are important in the pathophysiology of sinusitis. Based on the similarities between otitis media (OM) and sinusitis, and our previous research on OM, we hypothesized that nutritional supplements would be effective adjunctive therapy for the treatment of children...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ijporl.2004.01.009
更新日期：2004-06-01 00:00:00
abstract：OBJECTIVES:Silymarin is a plant extract with strong antioxidant properties in addition to anti-inflammatory and anticarcinogenic actions. The aim of this study was to investigate the potential preventive effect of silymarin on cisplatin ototoxicity in an auditory cell line, HEI-OC1 cells. METHODS:Cultured HEI-OC1 cell...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2013.12.024
更新日期：2014-03-01 00:00:00
abstract：:The past few decades have been a time of rapid and constantly-accelerating development in every field of medicine, including pediatrics and laryngology. The first pediatric laryngology unit set up in Poland was in the Warsaw Kopernik Hospital in 1908, and consisted of seven beds in the surgical ward. The actual develo...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 历史文章,杂志文章
doi：10.1016/j.ijporl.2008.12.030
更新日期：2009-04-01 00:00:00
abstract：OBJECTIVES:Several test batteries have been suggested for auditory processing disorder (APD) diagnosis. One of the important tests is dichotic listening tests. Significant ear asymmetry (usually right ear advantage) can be indicative of (APD). Two main trainings have been suggested for dichotic listening disorders: Dif...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2018.05.014
更新日期：2018-07-01 00:00:00
abstract：INTRODUCTION:Tympanic membrane cholesteatoma (TMC) is a rare anomaly found in pediatric patients with no significant otologic history. Its pathogenesis appears distinct from congenital mesotympanic cholesteatoma. This systematic review and meta-analysis evaluates the management of TMC. METHODS:Two authors independentl...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.ijporl.2017.08.027
更新日期：2017-11-01 00:00:00
abstract：:Neonatal rhinitis as a distinct disease entity has not been well-studied. The recognition and treatment of this condition is important since neonates are obligate nasal breathers, and mismanagement of this entity can result in poor feeding or even death from respiratory distress. We undertook a retrospective analysis ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/S0165-5876(96)01464-4
更新日期：1997-02-14 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：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
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ijporl.2013.08.018
更新日期：2013-11-01 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：OBJECTIVE:The critically high prevalence of bacterial otitis media worldwide has prompted a proper disease management. While vaccine development for otitis media is promising, the reliable and effective methods for diagnosis of such etiologic agents are of importance. METHODS:We developed a multiplex polymerase chain ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2012.11.019
更新日期：2013-02-01 00:00:00
abstract：OBJECTIVE:To describe a clinical staging system for nontuberculous mycobacterial (NTM) cervicofacial lymphadenitis that has both diagnostic and therapeutic implications. METHODS:A Medline database search was performed using key words "nontuberculous mycobacteria". All articles pertaining to nontuberculous mycobacteria...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2011.09.018
更新日期：2011-12-01 00:00:00
abstract：UNLABELLED:Haemophilus influenzae is one of the most important respiratory pathogens of man. It has been etiologically associated with otitis media, otorrhea, and chronic obstructive pulmonary disease. Identification of new genomic elements will provide novel targets to fight chronic infections caused by this organism....
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(03)00093-4
更新日期：2003-07-01 00:00:00
abstract：:Craniometaphyseal dysplasia is a rare genetic condition characterised by hyperostosis of the skull base and sclerosis of craniofacial bones. This can cause nasal obstruction. This paper presents the case of a 14-year old with craniometaphyseal dysplasia presenting with nasal obstruction successfully treated with turbi...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2015.03.029
更新日期：2015-06-01 00:00:00
abstract：:Untreated congenital syphilis is a known cause of hearing loss. In order to ascertain if infants are at risk of hearing loss at birth, 75 neonates with serologic evidence of syphilis and APGAR scores greater than 9 at 5 min were examined by auditory brainstem response (ABR) audiometry. All of the infants had normal AB...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(94)90046-9
更新日期：1994-07-01 00:00:00
abstract：OBJECTIVE:Otitis media with effusion (OME) is a condition of uncertain aetiology seen in paediatric practice. It has important sequelae that can result in significant morbidity. Worldwide documentation of OME prevalence in older children is poor as OME is traditionally seen in children below the age of 6 years. Availab...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2013.06.024
更新日期：2013-09-01 00:00:00
abstract：:Endoscopic posterior cricoid split with costal cartilage graft stabilization has previously been shont to allow for glottic/infraglottic expansion in children with long standing vocal fold paralysis. We report on an extension of this technique to use in the acute setting in the management of acute BVP in children with...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2008.06.015
更新日期：2008-10-01 00:00:00
abstract：:Although microorganisms are cultured in only one out of 3 middle ear effusions, viable and non-viable bacteria are presumed to be responsible in part for otitis media with effusion (OME). Because of this association, antibiotics in sublethal, bacteriostatic, or bacteriocidal concentrations are frequently used as non-s...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(90)90077-5
更新日期：1990-11-01 00:00:00
abstract：OBJECTIVE:To describe the technique and results of primary endonasal endoscopic dacryocystorhinostomy in children with nasolacrimal duct blockage and review of literature with comparison of the results in adults. MATERIALS AND METHODS:A prospective study was carried out between the months of January 2002 to December 2...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ijporl.2005.12.016
更新日期：2006-07-01 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：:Bilateral nasal obstruction due to simultaneous bilateral dacrocystocoeles is a rare and potentially life threatening condition. We present a five day old girl with this condition who presented with respiratory distress without any eye signs or symptoms associated with dacryocystocoeles. She was successfully managed w...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2016.11.027
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To understand parent perceptions of types and severity of barriers to care within the pediatric otolaryngology patient population in WV. STUDY DESIGN:Descriptive survey. SETTING:University pediatric otolaryngology clinic, Morgantown, WV. SUBJECTS AND METHODS:Subjects were caretakers of pediatric patients i...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2019.109617
更新日期：2019-11-01 00:00:00
abstract：OBJECTIVE:Parameters to distinguish normal from deviant voices in early childhood have not been established. The current study sought to auditorily and acoustically characterize voices of children, and to study the relationship between vocal behavior reported by teachers and the presence of vocal aberrations. METHODS:...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2012.02.067
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVE:Acute infection of the sphenoid sinus usually affects both pre-adolescent and adolescent subjects and is associated with infections of the other paranasal sinuses. Acute isolated sphenoiditis, though uncommon, is frequently misdiagnosed as symptoms are vague and there are few clinical findings. Indeed, it is ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2006.07.011
更新日期：2006-12-01 00:00:00
abstract：OBJECTIVES:To describe our experience using radiologically-guided balloon sialoplasty to successfully treat sialadenitis in two children as a single modality intervention. METHODS:A retrospective case series. RESULTS:Both children were successfully treated using balloon sialoplasty with complete and lasting resolutio...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.06.021
更新日期：2016-09-01 00:00:00
abstract：OBJECTIVES:VHIT is the first vestibular test to evaluate all six semicircular canals. This test has advantages over the rotary chair and caloric tests in evaluating children since it does not require fear-inducing darkness or provocation of dizziness. The goal of this study was to review our initial experience with VHI...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.05.033
更新日期：2015-08-01 00:00:00
abstract：OBJECTIVES:To evaluate the prevalence and features of pediatric laryngeal malignancies and to review the demographics, management, and survival of pediatric patients with laryngeal squamous cell carcinoma as compared to adult patients. METHODS:Patients aged 0 (younger than 1) to 18 with laryngeal malignancy identified...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110507
更新日期：2021-01-01 00:00:00
