Abstract:
:Lipoid proteinosis is an autosomal recessive disorder that may display multiple systemic manifestations involving mucosal deposition of hyalin material. Skin and upper aerodigestive tract mucosal involvement predominate. In approximately two thirds of cases, voice change secondary to laryngeal involvement occurring at birth or early in infancy is the first manifestation of the disease.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Savage MM,Crockett DM,McCabe BFdoi
10.1016/0165-5876(88)90048-1subject
Has Abstractpub_date
1988-02-01 00:00:00pages
33-8issue
1eissn
0165-5876issn
1872-8464pii
0165-5876(88)90048-1journal_volume
15pub_type
杂志文章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 U...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2019.02.021
更新日期:2019-05-01 00:00:00
abstract:INTRODUCTION:Preauricular lesions, including tags, pits, sinuses, and cysts are commonly seen. Some studies have shown increased incidence of hearing loss in these patients but other studies have failed to corroborate this finding. The purpose of this study is to evaluate the incidence of hearing loss in patients with ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.12.032
更新日期:2017-02-01 00:00:00
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:Though there are reports regarding congenital microtia in various populations, few studies have focused on patients in South Korea. The objectives of the present study were to investigate the characteristics of microtia in South Korea and demonstrate the contribution of environmental risk factors to the occu...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.12.009
更新日期:2012-03-01 00:00:00
abstract::A 14-year-old boy with conduction hearing loss, acrocephaly, minimum syndactyly, broad thumbs and big toes is classified as being affected with a form of acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) [12]. It is the first case of this syndrome presented in the otorhinolaryngological literature. During ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(81)90059-8
更新日期:1981-12-01 00:00:00
abstract:OBJECTIVES:Trisomy 18 and 13 are the most common autosomal trisomy disorders after Down syndrome. Given the high mortality rate (5-10% one-year survival), trisomy 18 and 13 were historically characterized as uniformly lethal and palliation was the predominant management approach. Management strategy has shifted with re...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.08.017
更新日期:2015-11-01 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:To investigate the association between cleft lip and/or palate and nongenetic factors in Greece. METHODS:We designed a case-control study including 35 patients with nonsyndromic cleft lip and/or palate, retrospectively selected, and 35 control patients matched for prefecture of residence, prospectively selec...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.02.018
更新日期:2011-05-01 00:00:00
abstract::Cogan's syndrome is a rare chronic inflammatory disorder which typically associates an ophthalmological and vestibulocochlear involvement, with a risk of systemic symptoms in 50-70% of cases. Autoimmune origin has been consolidated by the recent discoveries of Lunardi as a result of the dysregulation of the response o...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.06.025
更新日期:2009-10-01 00:00:00
abstract::Infiltrating lipomas are rare benign tumors. Several cases have previously been reported in the oral cavity but only three cases have been reported to date in children. We report a case of a 7-year-old child with an infiltrating lipoma of the neck and a posterior extension to the fourth and fifth cervical roots and th...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/s0165-5876(98)00173-6
更新日期:1999-01-25 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:Thyroglossal duct (TD) anomalies are generally considered to be a distinct clinical entity. However occasional cases do not conform to the standard picture and are complex. This study aimed to scrutinise consecutive cases of TD anomaly managed surgically over 7 years at a tertiary teaching hospital and analys...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.05.020
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVES:The Intelligibility in Context Scale (ICS) is a parent-report scale, world-wide translated and widely validated, by which parents can rate their child's functional speech intelligibility according to seven different communicative partners. The study aimed to report and discuss the normative data of the Itali...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.109924
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVE:To assess the changes in the facial attractiveness (FA) in two groups of cleft lip and palate patients with Class III malocclusions treated using LeFort I surgery or late maxillary protraction. MATERIALS AND METHODS:Standardized pre- and post-treatment photographs were taken of 32 patients (17 corrected by o...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2013.05.042
更新日期:2013-09-01 00:00:00
abstract::Invasive aspergillosis (IA) is a major cause of morbidity and mortality in immunosuppressed patients. Primary oral invasive aspergillosis is a rare condition. We present an acute lymphoblastic leukemia (ALL) patient with hard palate perforation due to invasive aspergillosis. Two months after the appearance of the fung...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.03.035
更新日期:2005-10-01 00:00:00
abstract::In the present paper, the authors report the results of the Universal Newborn Hearing Screening (UNHS) project at the University Hospital of Ferrara. A total of 6,759 full-term newborns and a total of 1,016 NICU babies were tested at the University Hospital of Ferrara, from January 2000 to December 2006. The paper pre...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.02.011
更新日期:2008-06-01 00:00:00
abstract::This paper evaluates reflectometry, or acoustic otoscopy, as an objective test for the mobility of intact tympanic membranes in Australian Aboriginal children, who are a population at high risk for otitis media. Reflectometry, pneumotoscopy and tympanometry were compared in 395 ears in 198 Aboriginal children living i...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(93)90009-r
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND:Studies have shown that Helicobacter pylori (H. pylori) infection may be associated with the occurrence of otitis media with effusion (OME) in children. OBJECTIVE:This is a systematic review of the relevant published literature to explore the relationship between H. pylori infection and OME in children. ME...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110091
更新日期:2020-08-01 00:00:00
abstract:INTRODUCTION:The prevalence of pediatric obstructive sleep apnea (OSA) has increased concurrently with the increasing prevalence of obesity. We have previously validated a short questionnaire predicting the occurrence of OSA on polysomnography (PSG). This follow-up study assessed the utility of the questionnaire in pre...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 临床试验,杂志文章
doi:10.1016/j.ijporl.2017.09.006
更新日期:2017-11-01 00:00:00
abstract:INTRODUCTION:Previous studies have suggested a direct relationship between the nasopharyngeal carriage of potential middle ear pathogens and the development of middle ear disease. It has been shown that otitis-prone (OP) children tend to be colonized more often than non-OP children. To study the turnover of nontypeable...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(00)00321-9
更新日期:2000-08-11 00:00:00
abstract:INTRODUCTION:Children with achondroplasia are predisposed to obstructive sleep apnea (OSA), however little is known regarding surgical interventions and outcomes for this condition. The aim of this study was to evaluate the severity of OSA in children with achondroplasia and report outcomes of surgical interventions us...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110332
更新日期:2020-11-01 00:00:00
abstract::One hundred seventy children and 103 adults from a rural Nigerian village were examined for the presence of middle and external ear pathology. Ear, nose and throat examination included: (1) pneumatic otoscopic exam, (2) tympanometry and (3) contralateral acoustic reflex. A diagnostic algorithm was applied to these 3 f...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(83)80004-4
更新日期:1983-01-01 00:00:00
abstract:INTRODUCTION:Paediatric periorbital cellulitis is a common condition. Accurate assessment can be challenging and appropriate use of CT imaging is essential. We audited admissions to our unit over a four year period, with reference to CT scanning and adherence to our protocol. METHODS:Retrospective audit of paediatric ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.06.025
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVES:To evaluate the reliability and validity of the Chinese version of pediatric voice handicap index (pVHI). MATERIAL AND METHODS:The original English version-pVHI was translated into Chinese. Parents of 52 children with voice dysphonia and 43 children with no history or symptoms of voice problems were asked t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.12.018
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:To investigate the genetic causes of hearing loss in a two generation Chinese family with enlarged vestibular aqueduct syndrome (EVAS). METHODS:Clinical and genetic evaluations were conducted in a deaf proband and her normal-hearing parents. Sanger sequencing analysis of all the 21 exons, the exon-intron bou...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.03.020
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:1.) Describe demographic and clinical characteristics of pediatric nasal septal perforations (NSP), 2.) Analyze efficacy of treatment modalities in symptom management and resolution of pediatric NSP, 3.) Describe the surgical technique of external rhinoplasty with vascularized nasal septal flaps in the treatm...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.12.001
更新日期:2019-03-01 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::Infantile myofibroma is the most common fibrous tumor of infancy. Although the etiology is unknown, some cases are associated with a genetic inheritance of variable penetrance. With a myriad of possible locations, the presenting symptoms and findings are highly variable making its diagnosis difficult. Worldwide, there...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2010.09.015
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:Mental function is considered to affect the post-operative outcomes of deaf children with cochlear implants. The purpose of this study is to evaluate the effect of mental function on the auditory performance in children with cochlear implants. METHODS:In a retrospective review of data, 26 pre-lingual deafene...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.04.011
更新日期:2004-09-01 00:00:00
abstract::Spontaneous salivary otorrhoea is an extremely rare clinical entity. Most of the times, salivary otorrhoea results from various forms of trauma. It has also been attributed to the patent foramen of Huschke, and fissures of Santorini. Here, we present a rare case of an 8 year old child presenting with salivary discharg...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2015.07.032
更新日期:2015-10-01 00:00:00