Search

Over the past decade, the adoption of universal hearing screening in newborns has led to earlier detection of hearing problems and significant lowering of the age of first cochlear implantation. As a consequence, recipients are now expected to keep their cochlear implants (CIs) for a longer period of time. Comprehensive longitudinal information on CI reliability is essential for device choice. The aim of this study was to assess the reliability (in children and adults) of the latest generation of the Digisonic(®) SP CI launched in 2006 by Neurelec. Failure rate (FR) and cumulative survival rate (CSR) for a 5-year period were calculated. This survey is a multicenter retrospective study. A questionnaire was sent to nine CI centers requesting information about patients implanted with Neurelec Digisonic(®) SP CIs. FR and CSR over a 5-year period were calculated on this group. Collaborating centers collected data on 672 patients (362 children and 310 adults) implanted between March 2006 and March 2011. The overall rate of explantation was 2.23 % (15 cases): six devices were explanted due to device failure (0.89 %) and nine were explanted for medical reasons (1.34 %). Four patients were lost to follow-up. The CSR at 5 years was 98.51 % on all patients, 98.48 % for children and 98.57 % for adults. FR was 0.97 % for adults and 0.83 % for children. This first independent study that assesses FR and CSR on the current generation of Digisonic(®) SP CI represents an important resource that can help clinicians and patients during their device choice.

9 páginas, 4 figuras.-- This article is distributed under the terms of the Creative Commons Attribution Noncommercial License.-- et al., POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 function are associated with X-linked deafness type 3 (DFN3). Multiple deletions affecting up to ~900-kb upstream of POU3F4 are found in DFN3 patients, suggesting the presence of essential POU3F4 enhancers in this region. Recently, an inner ear enhancer was reported that is absent in most DFN3 patients with upstream deletions. However, two indications suggest that additional enhancers in the POU3F4 upstream region are required for POU3F4 function during inner ear development. First, there is at least one DFN3 deletion that does not eliminate the reported enhancer. Second, the expression pattern driven by this enhancer does not fully recapitulate Pou3f4 expression in the inner ear. Here, we screened a 1-Mb region upstream of the POU3F4 gene for additional cis-regulatory elements and searched for novel DFN3 mutations in the identified POU3F4 enhancers. We found several novel enhancers for otic vesicle expression. Some of these also drive expression in kidney, pancreas and brain, tissues that are known to express Pou3f4. In addition, we report a new and smallest deletion identified so far in a DFN3 family which eliminates 3.9 kb, comprising almost exclusively the previous reported inner ear enhancer. We suggest that multiple enhancers control the expression of Pou3f4 in the inner ear and these may contribute to the phenotype observed in DFN3 patients. In addition, the novel deletion demonstrates that the previous reported enhancer, although not sufficient, is essential for POU3F4 function during inner ear development., This work was supported by grants from the Spanish Ministry of Education and Science (BFU2007-60042/BMC, Petri PET2007_0158, CSD2007-00008) and Junta de Andalucía (Proyecto de Excelencia CVI-3488) to JLG-S, and the Oticon Foundation (Denmark) to MBP. CABD is institutionally supported by CSIC, Universidad Pablo de Olavide and Junta de Andalucía.

We sought to determine the morbidity and the short and long-term effectiveness of tonsillotomy (partial tonsillectomy) performed with scissors compared with conventional cold knife (total) tonsillectomy.We conducted a 2-year prospective non-randomized study at a tertiary children's hospital. One thousand and twenty-three children were recruited (243 in the tonsillotomy and 780 in the tonsillectomy group). Age, sex, weight, and time of operation, immediately post-operative complications and pain were recorded. Eighteen months after the operation data on weight, parents' satisfaction and recurrence of obstructed symptoms was obtained in 60 randomly selected children of each group.Post-operative complications rates were very low in both groups and their differences did not reach statistical significance. However, tonsillotomies were significantly better than tonsillectomies in relation to post-operative pain the 1st (P0.001) and the 7th (P0.001) post-operative day, and lasted an average of 2.5 min less. Concerning long-term effects, both methods resulted in an increase of patients' weight without the difference in weight increase be statistically significant. In addition, parents' satisfaction as well as oral malodour do not seem to differ significantly. Finally, although twice as many children in the tonsillotomy group had a recurrence of snoring compared to tonsillectomy group, only in about half of them was the problem regarded significant enough by their parents to require medical consultation or reoperation. At the end, an estimated 3.5% of the tonsillotomy group was offered a tonsillectomy in the long term.This trial shows that scissors tonsillotomy in combination with an adenoidectomy is a viable therapeutic option with less immediate post-operative morbidity than tonsillectomy in young children whose sleep disorder breathing is due to a combination of tonsilar and adenoid hypertrophy. However, parents should be informed of the possibility of regrowth and reoperation.

Objectives Connexins (Cxs) are membrane-spanning proteins that co-assemble into intercellular gap junction channels. Gap junction channels mediate electrical and biochemical communication between adjacent cells and play vital roles as mediators of intercellular molecular signaling. Cx-linked deafness highlights the key role of gap junctions in the physiological processes of hearing. Co-localization of Cxs with the gap junction system in the inner ear suggests a role in cochlear electrolyte homeostasis. During auditory transduction, they are proposed to maintain membrane potentials by regulating the flow of potassium ions between the sensory epithelia of the inner ear. Methods Clinical and molecular genetic methods were employed in a Greek proband presenting with bilateral, postlingual, non-syndromic, sensorineural deafness. Results We detected a novel c.292C > T (p.R98W) mutation in compound heterozygosity with the c.35delG mutation in the GJB2 gene. Conclusion Although mutations in the GJB2 gene usually cause prelingual, severe to profound deafness, compound heterozygosity of the novel c.292C > T (p.R98W) and the c.35delG GJB2 mutations appears to be the cause of postlingual, moderate, sensorineural deafness in our proband.

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.

Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein. One specific mutation in this gene, 35delG, accounts for the majority of GJB2 mutations detected in Caucasian populations. Some previous studies have assumed that the high frequency of the 35delG mutation reflects the presence of a mutational hot spot, while other studies support the theory of a common founder. Greece is among the countries with the highest carrier frequency of the 35delG mutation (3.5%), and a recent study raised the hypothesis of the origin of this mutation in ancient Greece. We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers inside or flanking the GJB2 gene. The allele distribution in the patients was compared to 60 Greek normal hearing controls. A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation.

Summary Objective The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and to perform genetic linkage analysis to known otosclerosis loci and collagen genes. In addition, we looked for mutations in the NOG gene to rule out congenital stapes ankylosis syndrome. Methods Audiological analysis of the affected persons was based on multiple linear regression (MLR) analysis and construction of age-related typical audiograms (ARTA). Genotyping of microsatellite DNA polymorphisms for known otosclerosis (OTSC) loci or collagen genes and linkage analysis using the MLINK computer program were performed. The coding region of the NOG gene was screened for mutations by direct DNA sequencing. Results The hearing loss in this family appears in childhood as conductive, but soon becomes mixed. Because the additional sensorineural component is progressive, this finally has lead to a pure sensorineural hearing loss in some family members, as the conductive component is masked. Audiological analysis showed an age-independent conductive component and a progressive frequency-specific sensorineural component. Linkage analysis excluded linkage to the four known otosclerosis loci (OTSC1, OTSC2, OTSC3, and OTSC5), as well as to the COL1A1 and COL1A2 genes. Mutation analysis of the coding region of the NOG gene did not reveal any disease causing mutation. Conclusions This study represents the first description of a detailed audiological analysis in a large pedigree segregating otosclerosis as a monogenic autosomal dominant trait. Exclusion of the four known otosclerosis loci in this family shows that monogenic otosclerosis is a genetically heterogeneous disease involving at least five different genes. A mutation in the NOG gene is not the underlying molecular mechanism of the early onset otosclerosis segregating in this family.

OBJECTIVE: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in the Greek population. METHODS: In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific polymerase chain reaction (PCR) for the detection of the 35delG mutation. Patients heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene. RESULTS: The 35delG mutation was found in 42.2% of the chromosomes in 45 familial cases of prelingual, nonsyndromic deafness (18 homozygotes and 2 heterozygotes) and in 30.6% of the chromosomes in 165 sporadic cases (45 homozygotes and 11 heterozygotes). Direct genomic sequencing in heterozygous patients revealed the L90P (2 alleles), W24X (2 alleles), R184P (2 alleles), and 291insA (1 allele) mutations. CONCLUSION: Mutations in the GJB2 gene are responsible for about one third of prelingual, sensorineural, nonsyndromic deafness in the Greek population, and allele-specific PCR is an easy screening method for the common 35delG mutation. Int J Pediatr Otorhinolaryngol

One hundred and twenty patients (children) with Down's Syndrome were examined by the Audiological Dept. at 'Aghia Sophia' Children's Hospital during the period 1988-1990. Of these 73 (60.8%) were boys and 47 (37.2%) were girls. Their ages varied from 7-18 years of age with an average age of 14.8 years. Physical examination included otoscopy, tympanometry, and in some cases auditory brainstem audiometry. It is worth noting that a high percentage of these patients were unable to cooperate in this study, therefore making it obligatory to utilize objective measures for hearing evaluation.