Abstract：
INTRODUCTION:MYO7A gene has been shown to be associated with Usher syndrome 1B and nonsyndromic deafness. Although a lot of mutations have been reported in MYO7A gene, novel MYO7A mutations are continuously to be identified. METHODS:Targeted next generation sequencing was performed on the two unrelated patients with Usher syndrome 1B and nonsyndromic deafness respectively. The identified mutations from targeted next generation sequencing were further validated by Sanger sequencing, and analyzed by bioinformatics tools, like SIFT, Polyphen-2, PyMOL, I-Mutant 2.0 and so on. RESULTS:By analyzing the sequencing data of these two patients, four novel MYO7A mutations were revealed: (i) MYO7A p.Tyr560Ser and p.Ala2039Pro were associated with Usher syndrome 1B. (ii) MYO7A c.2187 + 2_+8 delTGAGCAC and p.Leu728Pro were related to nonsyndromic hearing loss. These mutations were further proved to be possibly disease-causing by segregation analysis, conservation analysis and bioinformatics tools. CONCLUSIONS:Four novel MYO7A mutations were identified in the present study. These findings provided new evidence for the genetic counseling of Usher syndrome 1B and nonsyndromic deafness.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Li Y,Su J,Ding C,Yu F,Zhu Bdoi
10.1016/j.ijporl.2019.02.021subject
Has Abstractpub_date
2019-05-01 00:00:00pages
166-172eissn
0165-5876issn
1872-8464pii
S0165-5876(19)30086-2journal_volume
120pub_type
杂志文章abstract：OBJECTIVE & HYPOTHESIS:Stated in the Null form: There will be no difference in primary or secondary hemorrhage rate in children undergoing tonsillectomy or adenotonsillectomy across three surgical techniques: PEAK Plasmablade, electric monopolar cautery, coblation. STUDY DESIGN:Retrospective chart analysis. SETTING:A...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.07.007
更新日期：2016-09-01 00:00:00
abstract：:An exhaustive literature review of the last two decades discloses 47 laryngeal malignant neoplasms in children and adolescents. The most frequent malignant neoplasm is the embryonal variant of rhabdomyosarcoma. The timely diagnosis of a laryngeal neoplasm depends on maintaining a high index of suspicion in a patient w...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/s0165-5876(99)00038-5
更新日期：1999-06-15 00:00:00
abstract：OBJECTIVE:Hearing loss in children may be due to a wide variety of pathologies. Recently, use of otoacoustic emission technology has led to identification of auditory neuropathy as a distinct hearing disorder. Children with auditory neuropathy require audiological and educational management that may differ from that re...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(01)00543-2
更新日期：2001-10-19 00:00:00
abstract：:Congenital epiglottic cyst is a rare affliction with potential for airway obstruction. A newborn boy was referred to our department for evaluation of respiratory distress and inspiratory stridor 7 h after birth. Through a transnasal fiberoptic laryngoscopy examination, a diagnosis of an obstructive upper laryngeal cys...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(00)82012-1
更新日期：2000-07-14 00:00:00
abstract：OBJECTIVE:The Waldeyer's ring, comprised of the nasopharyngeal tonsil, the paired tubal tonsils, the paired palatine tonsils, and the lingual tonsil, is arranged in a circular orientation around the wall of the throat. The location of the palatine tonsils, specifically, enables these structures to come in direct contac...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2008.12.013
更新日期：2009-04-01 00:00:00
abstract：:Early diagnosis, evaluation and treatment of childhood deafness are essential for a child's normal growth. Etiological diagnosis of hearing loss makes prevention, family scheduling and more effective therapy feasible goals. Etiological assessment of sensorineural deafness still remains difficult although recently with...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2004.11.007
更新日期：2005-04-01 00:00:00
abstract：UNLABELLED:The cause of upper respiratory tract infections (URTI) are multifactorial (enlarged adenoid, environmental conditions, staying at the care centers, smoking parents, allergy). Directly, viral infection causes damage to the ciliary cells and mucociliary clearance in the nasopharynx and Eustachian tube, promote...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(99)00178-0
更新日期：1999-10-05 00:00:00
abstract：INTRODUCTION:Dexmedetomidine is a novel pharmacologic agent that has become a frequently used adjunct during care of pediatric patients with obstructive sleep apnea (OSA) undergoing tonsillectomy. While generally safe and effective, dexmedetomidine is associated with adverse effects of hypotension and bradycardia from ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2017.11.025
更新日期：2018-01-01 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：OBJECTIVES:In many studies evaluating the effect of sequential bilateral cochlear implantation in congenitally deaf children, device use is not taken into account. In this study, however, device use was analyzed in relation to auditory brainstem maturation and speech recognition, which were measured in children with ea...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.05.003
更新日期：2016-07-01 00:00:00
abstract：:The neck is divided into multiple compartments by cervical fasciae. The deep space compartments, which all have a potential for becoming infected, are interconnected, providing a mechanism for the spread of infections. Thus, infections of the deep spaces can lead to devastating consequences, especially when there is e...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.02.016
更新日期：2016-04-01 00:00:00
abstract：:Haemangiomas are the most common soft tissue tumor of infancy. Despite the benign and trivial nature of most cutaneous haemangiomas, airway haemangiomas are rare but potentially life threatening. We report the case of a 9-week-old infant with a left main stem bronchial haemangioma. This was successfully treated with t...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(02)00403-2
更新日期：2003-04-01 00:00:00
abstract：:We present an unusual case of temporary sensorineural hearing loss in a 6-year-old child due to carbon monoxide. This was shown on both the audiograms and confirmed with objective testing using otoacoustic emissions. Carbon monoxide poisoning is one of the few recognised causes of reversible sensorineural hearing loss...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(02)00202-1
更新日期：2002-12-02 00:00:00
abstract：OBJECTIVE:To evaluate the usefulness of radiofrequency myringotomy (RFM) and the closure time of the myringotomy site in comparison to incisional myringotomy (IM). METHODS:We performed conventional surgical myringotomy on the right ears and RFM on the left ears of 40 rabbits. In order to investigate the effect of the ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2008.06.020
更新日期：2008-10-01 00:00:00
abstract：OBJECTIVE:The purpose of this study was to examine the levels of depressive symptoms and the unique contribution of two aspects of emotion regulation (coping and mood states) to the development of depression in hearing-impaired children and a control group. METHODS:In order to compare the groups, self-report questionn...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2011.07.023
更新日期：2011-10-01 00:00:00
abstract：OBJECTIVE:Identify differences in adenoidectomy performed by curettage versus electrocautery ablation. DESIGN:To receive adenoidectomy by curettage or electrocautery ablation 38 patients undergoing adenoidectomy or adenotonsillectomy were prospectively randomized. The study was completed by 24 patients. All tonsillect...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0165-5876(97)00159-6
更新日期：1998-03-01 00:00:00
abstract：OBJECTIVE:To evaluate the frequency of intracranial and orbital complications occurring as simultaneous but separate complications of acute rhinosinusitis in the pediatric population. METHODS:Records of children admitted to St. Louis Children's Hospital between 1 January 1990 and 31 December 2002 were reviewed. Releva...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2003.12.010
更新日期：2004-05-01 00:00:00
abstract：INTRODUCTION:There seems to exist a specific group of people considered to be at higher risk of having Auditory Processing Disorders (APD). These patients are frequently initially referred to, or managed by various professionals such as Otolaryngologists, Speech Therapists, and Occupational Therapists. It is, therefore...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2019.109848
更新日期：2020-04-01 00:00:00
abstract：OBJECTIVES:To investigate changes in obstructive sleep apnea (OSA) and central sleep apnea (CSA) in infants with Pierre-Robin sequence (PRS) with advancing age and after mandibular distraction osteogenesis (MDO). METHODS:Charts from 141 infants with PRS that presented to our tertiary-care children's hospital between 2...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.09.014
更新日期：2015-12-01 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：OBJECTIVES:The authors describe 28 pediatric cases of foreign body inhalation requiring treatment in intensive care units between 1987 and 1999. The purpose of this study was: (1) to analyze the circumstances, diagnostic difficulties and initial treatment of serious foreign bodies and (2) to compare our series with oth...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2006.07.022
更新日期：2006-11-01 00:00:00
abstract：OBJECTIVE:Despite the variable clinical course of diseases related to Eustachian tube function, the variability of tubal function has been less focused than outcomes of single tests. This study aimed to compare the passive and active tubal function and its variability in children with secretory otitis media (SOM) at tu...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章
doi：10.1016/s0165-5876(00)00281-0
更新日期：2000-04-15 00:00:00
abstract：:Fibromatosis is a rare soft tissue disease typical for infants and characterized by fibroblastic proliferation, which may appear similar to fibrosarcoma. An unusual case of 4-year old girl presenting large tumor of the neck with massive calcification is described. The growth of the tumor was rapid and mediastinal invo...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2005.01.003
更新日期：2005-06-01 00:00:00
abstract：OBJECTIVE:The question whether progressive sensorineural hearing loss during childhood is the fateful course of a main illness has been discussed controversially over 60 years. No medicamentous therapy with satisfactory results has been described in the literature. The goal of this study was to determine whether an inf...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(00)00455-9
更新日期：2001-02-01 00:00:00
abstract：OBJECTIVE:Salivary gland tumors in children and adolescents are rare. Most papers are case reports or short series of cases. The aim of this study was to analyze clinicopathological and immunohistochemical data from a large series of salivary gland tumors affecting youngsters from a single institution. METHODS:From 19...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2004.02.004
更新日期：2004-07-01 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：OBJECTIVE:There are no reports on the therapeutic effect of Ginkgo biloba extract (GBE) on otitis media-induced labyrinthitis. The present study examined whether GBE can protect against cochlear damage induced by intratympanic instillation of lipopolysaccharide (LPS)-induced labyrinthitis. MATERIALS AND METHODS:Experi...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2011.04.003
更新日期：2011-07-01 00:00:00
abstract：OBJECTIVES:Tracheal reconstruction with tissue-engineering technique has come into the limelight in the realm of head and neck surgery. We intended to evaluate the plausibility of allogenic chondrocytes cultured with porcine cartilage-derived substance (PCS) scaffold for partial tracheal defect reconstruction. METHODS...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2013.10.014
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Nasal irrigation has been used as an adjunctive therapy of allergic rhinitis (AR). Available evidence suggested that buffered hypertonic saline (BHS) is superior to buffer normal saline (BNS) for relief nasal symptoms. OBJECTIVE:To evaluate the effectiveness of BHS nasal irrigation in the management of chil...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ijporl.2012.01.022
更新日期：2012-04-01 00:00:00
abstract：OBJECTIVE:The aim of the present study was to assess the auditory temporal resolution ability in individuals with central auditory processing disorders, to examine the maturation effect and to investigate the relationship between the performance on a temporal resolution test with the performance on other central audito...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2011.10.022
更新日期：2012-02-01 00:00:00
