Abstract：
OBJECTIVE:To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. METHODS:502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. RESULTS:Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03-3.68) and 1 homozygous (95% Confidence Interval 0.01-1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03-3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11-12.8) were heterozygous and 7 (95% Confidence Interval 3.61-15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13-8.31) and 2 homozygous (95% Confidence Interval 0.13-8.31). CONCLUSION:The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Dória M,Neto AP,Santos AC,Barros H,Fernandes S,Moura CPdoi
10.1016/j.ijporl.2015.09.046subject
Has Abstractpub_date
2015-12-01 00:00:00pages
2187-90issue
12eissn
0165-5876issn
1872-8464pii
S0165-5876(15)00507-8journal_volume
79pub_type
杂志文章abstract：OBJECTIVES:The purposes of this study were to investigate the auditory performance and MAP characteristics of implanted children with narrow internal auditory canal (IAC), and to examine the clinical usefulness of MAP optimization as a predictor of their cochlear implant (CI) outcomes by analyzing their auditory perfor...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2012.07.021
更新日期：2012-11-01 00:00:00
abstract：:A case report of a 10 year old male illustrates the effect of damage to the tongue base, hypopharynx, cricopharyngeus, and esophagus on the sensory and motor components of the swallowing mechanism. The characteristics of the dysphagia were manifested clinically, radiographically, and endoscopically. A myectomy was req...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.04.003
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVES:Cochlear implantation does wonders for children suffering from severe to profound hearing loss, especially when the child is less than 12 months of age. However, most studies indicate that detection and implantation are done well beyond that age, owing to poor socioeconomic status, parental education, and in...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2020.110156
更新日期：2020-09-01 00:00:00
abstract：PURPOSE:To examine single stage laryngotracheal reconstruction (SSLTR) care to reduce complication and failure rate. METHODS:Forty-five patients that underwent primary SSLTR were examined retrospectively. All had pre-operative direct laryngoscopy and bronchoscopy, esophagoscopy with biopsy and MRSA screening. Pre-oper...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2018.08.023
更新日期：2018-11-01 00:00:00
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: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：INTRODUCTION:Despite being the second most common salivary disease in childhood, the aetiology and appropriate management of juvenile recurrent parotitis (JRP) remains uncertain. Consequently patients may be misdiagnosed, or even undergo indeterminate or potentially invasive procedures without benefit. This article rev...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/j.ijporl.2021.110617
更新日期：2021-01-04 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：OBJECTIVES:Bilateral BAHAs in adults with bilateral hearing loss (BHL) have proven to be superior to unilateral fitting, in both audiologically measurements and in overall patient satisfaction. There have been no similar studies in children. Furthermore, a recent meta-analysis of children with unilateral hearing loss (...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2006.09.014
更新日期：2007-01-01 00:00:00
abstract：:A random sample of 2512 children were monitored to an average age of two years to determine the occurrence of acute otitis media (AOM). A life-table methodology was employed in the analysis. The cumulative incidence of the first episode of AOM up to 12 months of age was 42.4% (95% confidence interval 40.4-44.4) and th...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(91)90054-f
更新日期：1991-02-01 00:00:00
abstract：:Snoring/sleep apnea are usual symptoms of adenotonsillar hypertrophy, and adenotonsillectomy is usually recommended. In rare cases, symptoms remain after surgery, and tubal tonsil hypertrophy could be the cause. We experienced a pediatric patient whose symptoms were refratory snoring/sleep apnea although he previously...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2017.02.010
更新日期：2017-04-01 00:00:00
abstract：:Congenital rests of gastric epithelium have been reported in a variety of head and neck locations. Presenting symptoms of these lesions range from an asymptomatic cyst to one which is compromising the airway. The true diagnosis is rarely suspected prior to excision. A case of a gastric choristoma of the tongue is pres...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(92)90070-6
更新日期：1992-07-01 00:00:00
abstract：:Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinic...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2017.11.001
更新日期：2018-01-01 00:00:00
abstract：INTRODUCTION:The Red Cross Children's Hospital is the only children's hospital in South Africa. It has a dedicated trauma unit for all children under the age of 13 and serves a population of approximately 2 million inhabitants. As part of the Child Accident Prevention Foundation program we have kept a database of all c...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2003.08.021
更新日期：2003-12-01 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：OBJECTIVE:In this study, we developed a biocompatible and biodegradable vancomycin (VM)-eluting electrospun poly(ɛ-caprolactone) (PCL)/polyethylene oxide (PEO)/VM/PCL nanofiber mat. The purpose of this study was to evaluate the efficacy of this nanofiber mat for preventing methicillin-resistant Staphylococcus aureus (M...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2015.05.037
更新日期：2015-08-01 00:00:00
abstract：BACKGROUND:A government directive aiming to minimise the theoretical risk of acquiring variant Creutzfeld-Jacob disease from reusable instruments lead to tonsillectomy with disposable instruments becoming standard practice in the UK during 2001. A perceived increase in post-tonsillectomy haemorrhage followed soon after...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ijporl.2003.08.032
更新日期：2003-12-01 00:00:00
abstract：:Fifty-five cases of acute epiglottitis were diagnosed and treated at the Children's Hospital of Philadelphia between 1985 and 1991. To evaluate the changing patterns of the disease over recent years, we compared the current results with those obtained from an earlier study reported at our institution in 1979. The over...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(93)90049-9
更新日期：1993-01-01 00:00:00
abstract：:Failure of decannulation after paediatric tracheostomy, once the underlying disorder has resolved, is almost always due to peristomal complications. Granulation tissue formation in the raw tissue of the stoma and its subsequent fibrosis requires removal (50 of the 293 tracheostomies from the Red Cross War Memorial Chi...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(92)90050-y
更新日期：1992-03-01 00:00:00
abstract：:Laser surgery on the paediatric larynx requires cooperation between the surgeon and anaesthetist to carry out the procedure in the safest manner possible. Over a period of 3 years, 45 laser procedures have been undertaken on the upper airway of 14 patients at our institution. All procedures were performed with volatil...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2004.11.018
更新日期：2005-04-01 00:00:00
abstract：:Assessment of candidacy for cochlear implantation in children continues to present a challenge to cochlear implant programs. The efficacy of implantation depends on a number of factors and as a result a multidisciplinary approach has been adopted. At the Cochlear Implant Program at The Hospital for Sick Children, Toro...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(99)00112-3
更新日期：1999-08-05 00:00:00
abstract：:Posterior laryngeal clefts have been reported as exceptionally rare congenital anomalies. We demonstrate that type 1 posterior laryngeal clefts are more common than previously described, by reporting a series of 12 type 1 posterior laryngeal clefts diagnosed at our institution over a 12-month period. Typically, type 1...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(03)00058-2
更新日期：2003-06-01 00:00:00
abstract：OBJECTIVE:Phospholipase A2 (PLA2) plays a major part in growth regulation, differentiation and inflammation. It has been proposed as an evaluating marker for infection and inflammation. The aim of this study was to investigate activity of serum type II secretory PLA2 (sPLA2 IIa) in obstructive sleep apnea (OSA) and rec...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2011.12.026
更新日期：2012-04-01 00:00:00
abstract：:Otitis externa is a common symptom of Langerhans' cell histiocytosis, and occurs in half of all children with the disease. Previous treatment regima have been either unsuccessful, or associated with undesirable side-effects. This study describes the successful use of topical 20% nitrogen mustard ear drops in the manag...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(94)90197-x
更新日期：1994-08-01 00:00:00
abstract：:Rosai-Dorfman disease (RDD) is an uncommon pathologic condition of unknown ethiology with an idiopathic proliferation of the hystiocytes. It is generally presented with massive bilateral hypertrophy of the cervical lymph nodes. But other lymph nodes may also be involved. Approximately, 30% of these patients have extra...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2004.03.014
更新日期：2004-08-01 00:00:00
abstract：:Thirty-three cases of ethmoidities with orbital complications were reviewed to determine the accuracy of clinical diagnosis and the benefit of CT scans in planning treatment. Patients were classified according to the Schramm et al. 1982 criteria of orbital involvement with ethmoiditis: periorbital cellulitis with chem...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/0165-5876(88)90062-6
更新日期：1988-05-01 00:00:00
abstract：INTRODUCTION:Auditory brainstem response (ABR) is a clinically established method to identify the hearing threshold in young children and is regularly performed after hearing screening has failed. Some studies have shown that, after the first diagnosis of hearing impairment in ABR, further development takes place in a ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.03.009
更新日期：2016-06-01 00:00:00
abstract：:Lemierre syndrome, otherwise known as postanginal sepsis or necrobacillosis, is an illness that originates as an acute pharyngitis or tonsillitis which progresses to sepsis, usually fusobacterial, due to suppurative thrombophlebitis of the internal jugular vein. Septic thromboemboli then seed various organs, resulting...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章,评审
doi：10.1016/s0165-5876(98)00092-5
更新日期：1998-09-15 00:00:00
abstract：OBJECTIVES:Newborn (NB) auditory deficit has a prevalence of 1-2% in the world. Since the 1990s different screening programs have been put into practice. The Newborn Hearing Screening Program has been in operation since 2002 in our hospital (HCUVA) in Murcia (Spain) and two years later it was introduced into the whole ...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/j.ijporl.2016.07.009
更新日期：2016-09-01 00:00:00
abstract：:A 35-month-old child presented to the Emergency Department with a suspected coin ingestion. A physical examination and radiographic examination revealed no evidence of the coin, and the child was prepared for discharge. When the child continued to refuse to drink, digital examination of the hard palate revealed the co...
journal_title：International journal of pediatric otorhinolaryngology
pub_type： 杂志文章
doi：10.1016/s0165-5876(00)00399-2
更新日期：2000-10-16 00:00:00
