Abstract：
:Chromosome 22, particularly 22q11.2 region, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velo-cardio-facial syndrome is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication in this region are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have been identified. The phenotype of these patients with microduplications is extremely diverse, ranging from normal to behavioral abnormalities to multiple defects, only some of which are reminiscent of the 22q11.2 deletion syndrome. The aim of this study was to investigate 22q11.2 microdeletion and microduplication among Iranian patients with mental retardation. For this purpose, 46 mental retarded patients who were tested negative for fragile X syndrome were involved in this study. The samples were assessed for 22q11.2 microduplication and microdeletions by Semi-Quantitative Multiplex Polymerase chain reaction (SQMPCR). MLPA was carried out to confirm the findings and to rule out other abnormalities in subtelomeric region. We found three patients with microdeletion and one with microduplication and one with 10p deletion syndrome. These findings proved evidence that microdeletion and microduplication of 22q11.2 can be a reason of mental retardation in Iranian population with unknown causes.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Mona M,Mehrdad N,Mehrdad B,Elham N,Khazamipour Ndoi
10.1016/j.ijporl.2012.07.029subject
Has Abstractpub_date
2012-11-01 00:00:00pages
1604-9issue
11eissn
0165-5876issn
1872-8464pii
S0165-5876(12)00431-4journal_volume
76pub_type
杂志文章abstract：OBJECTIVES:The purpose of the study is to know if mucin gene expression can be detected in the middle ear effusion and if so, which mucin genes are expressed in the effusions. METHODS:Mucin gene expression in the middle ear effusions obtained from five patients with otitis media with effusion were analyzed by reverse ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(02)00361-0
更新日期：2003-01-01 00:00:00
abstract：OBJECTIVE:This study was carried out to determine the relationship between two screening tools to detect auditory processing disorders (APDs). The two screening tools were the screening checklist for auditory processing (SCAP) and screening test for auditory processing (STAP). METHOD:Four hundred school-going children...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ijporl.2013.03.028
更新日期：2013-06-01 00:00:00
abstract：:Lesions produced by exposure to noise are frequent in everyday life. Injuries may be found in all systems of the human body, from the digestive to the endocrine, from the cardiovascular to the nervous system. Many organs may be damaged, the ear being one of them. It is known that noise produced by factories, airports,...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(95)01289-3
更新日期：1996-03-01 00:00:00
abstract：:In the newborn, severe airway obstruction is a rare occurrence. The possible etiologies include a broad spectrum of diseases with laryngeal cysts an unusual cause. If diagnosed and properly managed, however, the prognosis for this entity is excellent. Three cases presenting with airway obstruction secondary to unusual...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(96)01407-3
更新日期：1996-11-01 00:00:00
abstract：OBJECTIVE:To correlate audiometric findings and outcomes with the clinical, radiological and educational findings in a symptomatic congenital cytomegalovirus (CMV) population with sensorineural hearing loss. METHODS:A retrospective review of data from 21 symptomatic congenital CMV patients identified in a pediatric he...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2005.03.011
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND:Studies investigating the impact of having a child with hearing loss on the lives of parents and families have shown divergent results. Where some studies have reported that childhood hearing loss is associated with parental mental health problems, such as depression and stress, other studies report no impac...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2019.02.027
更新日期：2019-05-01 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：OBJECTIVES:To determine if children with recurrent croup (RC) and persistent laryngomalacia (LM) clinically improve after supraglottoplasty (SGP). MATERIAL AND METHODS:Retrospective chart review cohort at tertiary care children's hospital consisting of patients diagnosed with LM and RC that underwent SGP from July 201...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.02.035
更新日期：2016-05-01 00:00:00
abstract：:Granulomatosis with polyangiitis (GPA, previously known as Wegener's granulomatosis) is an autoimmune systemic small-vessel vasculitis, associated with the presence of anti-neurophil cytoplasmic antibodies with a cytoplasmic staining pattern (c-ANCA). It is characterized by necrotizing granulomas, usually affecting th...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2018.02.009
更新日期：2018-04-01 00:00:00
abstract：OBJECTIVE:Voice disorders in children are common but ways of their analysis are limited. We conducted a prospective feasibility study of rigid stroboscopy in children. METHODS:All children referred for voice analysis during the years 2002-2003 were evaluated including subjective perception of voice, voice recording, f...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2005.03.004
更新日期：2005-08-01 00:00:00
abstract：OBJECTIVES:To review developmental abnormalities and iatrogenic alterations in sinus anatomy that may predispose patients with congenital craniofacial malformations to chronic rhinosinusitis. STUDY DESIGN:Retrospective study. METHODS:Seven patients with craniofacial malformations who were surgically treated by the se...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2005.06.019
更新日期：2006-02-01 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：OBJECTIVES:To assess the evolution of electrode impedance after the early fitting of audio processors (activation after one-day) and classical fitting (activation after one-month) over an up-to-one year after cochlear implant (CI) surgery. METHODS:A retrospective cohort study on Fifty-two CI recipients divided into tw...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110543
更新日期：2021-01-01 00:00:00
abstract：:Lymphatic malformations are benign malformations frequently occurring in the head and neck. Retropharyngeal location is rare, can be life threating and its management is particularly challenging. Over a three-year period, three patients presented with symptomatic (dyspnea and/or dysphagia) retropharyngeal lymphatic ma...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.01.023
更新日期：2016-04-01 00:00:00
abstract：OBJECTIVES:(1) To define normative nasalance data for Dutch language with "the NasalView System", and obtain a reference for normality when nasality is evaluated in children. (2) To investigate the minimal number of required speech tasks for a reliable nasalance measurement. METHODS:55 children (30 normal and 25 velop...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2004.03.011
更新日期：2004-08-01 00:00:00
abstract：OBJECTIVES:1. Determine the percentage of patients under the age of 3 undergoing adenoidectomy-alone who require subsequent management of residual sleep disordered breathing (SDB).2. Characterize complications following adenoidectomy and determine if any perioperative factors are associated with intra-operative or post...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2017.12.030
更新日期：2018-03-01 00:00:00
abstract：:Hemophilia A, von Willebrand's disease and uremia prolong the bleeding time in affected children. Management of hemorrhage is difficult in these patients, and often requires multiple therapeutic modalities. Desmopressin, a synthetic analog of arginine vasopressin (DDAVP), decreases the bleeding time in patients with t...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(86)80043-x
更新日期：1986-09-01 00:00:00
abstract：:The subject of the case study was a 13 years old girl with Nijmegen breakage syndrome (NBS), having mild mental retardation and age inappropriate language skills. The case demonstrated severely delayed receptive and expressive language skills. The symptoms of NBS including congenital microcephaly, mild dysmorphic faci...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2009.01.003
更新日期：2009-06-01 00:00:00
abstract：OBJECTIVE:To describe differential features of giant cervical dermoid cysts and other cystic lesions of the head and neck. METHODS:Case report including magnetic resonance imaging, surgical excision, pathologic examination and correlation. RESULTS:We report the case of a 15-year-old boy who presented for evaluation o...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2006.11.020
更新日期：2007-04-01 00:00:00
abstract：:There has been a rapid global spread of a novel coronavirus, the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), which originated in Wuhan China in late 2019. A serious threat of nosocomial spread exists and as such, there is a critical necessity for well-planned and rehearsed processes during the care o...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110174
更新日期：2020-09-01 00:00:00
abstract：BACKGROUND:Total auricular reconstruction for hemifacial microsomia patients with extremely low hairline is a tough challenge in plastic surgery. In this work, a brand new technique using a singer expanded scalp flap without skin graft and combined with intense pulse light treatments (IPLT) for ear reconstruction is de...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2019.109726
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:To analyse the efficacy of CO(2) laser arytenoidectomy in the management of bilateral vocal cord paralysis in children. METHODS:Retrospective series of 17 patients who underwent laser arytenoidectomy for bilateral vocal cord between 1995 and 2008 in a tertiary care institution. All patients had bilateral lar...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2010.01.019
更新日期：2010-05-01 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：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：OBJECTIVE:The clinical features and incidence of benign paroxysmal positional vertigo (BPPV) are not well known in pediatric populations. The aim of this study was to describe the clinical characteristics of pediatric BPPV and to estimate the frequency of pediatric BPPV in the general population. METHODS:We retrospect...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110008
更新日期：2020-05-01 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:Post-transplant lymphoproliferative disorder (PTLD) is a rare complication of immunosuppression with little consensus on its evaluation and management. The purpose of this contemporary review is to describe a pediatric patient with PTLD of the airway and review the literature to provide multidisciplinary reco...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2016.04.035
更新日期：2016-07-01 00:00:00
abstract：INTRODUCTION:Surgery has been the treatment of choice for juvenile nasopharyngeal angiofibroma (JNA) and selection of proper surgical approach depends primarily upon the extensions of the tumor. Minimal external deformity/surgical scar without affecting growth pattern of facial skeleton of patient along with extensions...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2006.05.004
更新日期：2006-09-01 00:00:00
abstract：:The effect of a beclomethasone dipropionate nasal spray on middle ear effusion was tested in a double-blind study of drug vs placebo (vehicle). Seventy children, aged 4-14 years, sprayed each nostril twice daily for one month. Among them 35 received a daily dose of 400 micrograms of the beclomethasone. The results of ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章
doi：10.1016/0165-5876(82)90088-x
更新日期：1982-06-01 00:00:00
abstract：:The internal auditory canal forms as a result of mesoderm enveloping the eighth cranial nerve in the developing embryo. The mesoderm eventually transforms into cartilage and ultimately ossifies around the nerve, forming the internal auditory canal. It is theorized that atresia or stenosis of the internal auditory cana...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/s0165-5876(97)00044-x
更新日期：1997-07-18 00:00:00
