International journal of pediatric otorhinolaryngology
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Int. J. Pediatr. Otorhinolaryngol. · Mar 2010
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions in GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), have been found to be frequent in the Spanish population. The aim of this study was to determine the prevalence of GJB2 mutations and both GJB6 deletions in Argentinean children with non-syndromic deafness. ⋯ The overall frequency of GJB2/GJB6 mutations in the present sample is in agreement with other Caucasian populations. As expected, c.35delG was the most prevalent mutation. The deletion del(GJB6-D13S1830) was the second most common mutation. These findings reinforce the importance of the study of GJB2/GJB6 genes in diagnosis to provide early treatment and genetic counselling.
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Int. J. Pediatr. Otorhinolaryngol. · Feb 2010
Long-term voice outcome following partial cricotracheal resection in children for severe subglottic stenosis.
To correlate the postoperative voice outcome to preoperative glottic involvement, following partial cricotracheal resection (PCTR) in children. The glottic involvement was analysed based on the extent of subglottic stenosis (SGS) in the endoscopic image and functional dynamic assessment using flexible endoscopy. ⋯ Children with associated glottic involvement are at high risk for poor voice outcome following PCTR. The severity of dysphonia was found to be proportional to the preoperative glottic involvement. Preoperative rating of the extent of glottic involvement based on endoscopic image and dynamic assessment was found to be useful in prognosticating the voice outcome.
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Int. J. Pediatr. Otorhinolaryngol. · Feb 2010
Case ReportsEpiglottitis due to nontypeable Haemophilus influenzae in a vaccinated child.
Once a prevalent disease, acute epiglottitis in children has become a rare entity. The introduction of the Haemophilus influenzae type b vaccine has had a dramatic impact on the number of invasive infections caused by this organism. ⋯ Vaccinated children with epiglottitis present in a similar fashion to those who are not vaccinated. We present a rare case of acute epiglottitis in a fully vaccinated child due to nontypeable H. influenzae and discuss the clinical presentation and management.
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Int. J. Pediatr. Otorhinolaryngol. · Feb 2010
Retraction pockets of pars tensa in pediatric patients: clinical evolution and treatment.
To assess outcome in pediatric patients after treatment for retraction pockets of pars tensa in relation to retraction grade, site, occurrence of complications, and patient age. ⋯ A wait and see approach or conservative therapy is indicated only in mild-to-moderate retraction pockets owing to their benign prognosis. Pocket excision and tympanic reinforcement are absolutely indicated in advanced retractions with complications and/or bilateral conductive hearing loss to avert progression to more serious pathologies.
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Int. J. Pediatr. Otorhinolaryngol. · Jan 2010
The psychological impact of an adenoidectomy and adenotonsillectomy on young children.
Children react differently to surgeries. The purpose of this study is to examine the stress response in young children after an adenoidectomy and adenotonsillectomy, and whether child characteristics of behavioural and neurophysiological nature can predict this stress response. ⋯ An adenoidectomy and adenotonsillectomy appear not to be stressful, but rather seems helpful for reducing pre-existing behavioural and emotional problems, possibly associated with the indication for surgery. For those children with an increase of behavioural and sleeping problems after surgery, this can only be partly explained by emotional temperament. There are indications that boys and girls react differently; boys tend to show a better behavioural and emotional improvement after an adenoidectomy and adenotonsillectomy. Other behavioural or neurophysiological child characteristics do not have a predictive value on the outcome.