Biomedical subjects

Armagan Incesulu

Publications and source records attributed to Armagan Incesulu.

6 recordsLinked to original sources

PubMed2005

Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome.

Abnormalities, Multiple↗

PubMed2005

GJB2 mutations and degree of hearing loss: a multicenter study.

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.

Adolescent↗

PubMed2005

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m.1555A > G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus. Three affected children were later found to carry a novel homozygous c.3032T > C (p.Leu1011Pro) mutation in the OTOF gene. Both parents were heterozygous for the mutation. p.Leu1011Pro alters a conserved leucine residue in the C2D domain of otoferlin. Pure tone audiometry of the family showed severe to profound sensorineural hearing loss (with U-shape audiograms) in children, and normal hearing in the parents. Otoacoustic emissions and auditory brainstem response (ABR) suggested the presence of auditory neuropathy in affected individuals.

Amino Acid Sequence↗

PubMed2003

Children with cochlear implants: parental perspective.

OBJECTIVE: Evaluation of the parental perspective regarding cochlear implants and the child's progress after a minimum of 1 year after cochlear implantation. STUDY DESIGN: A closed-set questionnaire was used to assess the parental point of view. The questionnaire that was mailed to families included the following sections: decision to implant, process of implantation, positive effect of the implant, communication, supporting the child, self-reliance, well-being and happiness, social relationships, education, and pre- and postoperative services provided by the implant center. SETTING: The study was conducted at SSK Ankara Hospital, which is a tertiary care center. PATIENTS: Parents of 28 children with congenital deafness or who became deaf before the age of 3 years and received cochlear implantation were included in the study. To obtain reliable information, selected patients had a minimum of 1 year experience after implantation. The subjects were the parents of a group of children including 19 boys and 9 girls with ages ranging from 2 to 13 years (mean, 5.07 years; standard deviation, 2.33 years). The period of cochlear implant usage ranged from 12 to 30 months (mean, 19.5 months; standard deviation, 15.95 months). MAIN OUTCOME MEASURE: Assessment of parental view about cochlear implantation. RESULTS: Of 28 questionnaires sent, 27 were returned. Making decision for cochlear implantation was one of the most stressful steps for the parents. Although speech and language development was the major concern, parents reported outstanding improvement in communication skills, social relationships, and self-confidence for their child. All the families were anxious about a possible device failure, and maintenance of the cochlear implant equipment was another major concern. CONCLUSIONS: During pre- and postimplantation processes, parents provide an important link between the child and professional staff and have a vital role in the child's life and rehabilitation. The parental perspective presented in this study can be useful to the implant centers to revise their practice accordingly and improve the information given to candidate families.

Attitude to Health↗

PubMed2002

Cochlear implantation in children with inner ear malformations: report of two cases.

UNLABELLED: Cochlear implantation of congenitally deaf children with inner ear malformations is gaining special interest. Although the number of the reported cases is increasing, the decision for implantation needs thorough investigation. Preoperative evaluation, surgical approach and postoperative follow-up can be challenging. STUDY DESIGN: A retrospective analysis of two cases with inner ear malformations. PATIENTS: One patient was a 3-year-old-girl who had cochlear and cochleovestibular nerve aplasia on the left side and incomplete partition on the other side. The other patient was a 5-year-old-boy who had hypoplastic cochlea on both sides. Both of them also had vestibular anomalies. Cases were implanted by using multichannel cochlear implant. RESULTS: No complications were encountered. Both patients responded to acoustic stimuli, and their speech perception skills were improved. After 10 months of cochlear implant use, their results seem encouraging. CONCLUSION: Except cochlear or cochleovestibular nerve agenesis, inner ear malformations cannot be accepted as a contraindication for cochlear implantation. Although there can be difficulties during the surgery or in the postoperative period, patients with inner ear malformations can also benefit from cochlear implantation. It is essential that all possible complications and postoperative performance should be discussed with the parents.

Audiometry↗

PubMedDate not supplied

Preventive therapy for postoperative purulent otorrhea after ventilation tube insertion.

OBJECTIVE: Treatment modalities which are intraoperative irrigation of the middle ear with isotonic saline, postoperative oral antibiotic treatment, and postoperative topical antibiotic use have been compared with each other and with control group regarding their efficiency in preventing postoperative purulent otorrhea after ventilation tube insertion. Moreover, the costs of the treatment modalities were analyzed. STUDY DESIGN: Each group consisted of 70 patients, and a total of 280 patients were followed up for purulent otorrhea 2 weeks after the surgery. The study was a single-blind randomized clinical trial. RESULTS: Ten (14.28%) patients in the oral antibiotic group, 11 (15.71%) patients in the isotonic saline irrigation group, 6 (8.57%) patients in the topical antibiotic drops group, and 21 (30%) patients in the control group had postoperative purulent otorrhea. Statistical analysis determined a significant difference between each treatment modalities and control group but did not show any significant difference between the treatment groups. When the treatment options were compared according to their cost, however, the cost per successfully treated patient was significantly lower in the saline irrigation group. CONCLUSION: Intraoperative saline irrigation of the middle ear provides an effective, easy, and cheap treatment in preventing postoperative purulent otorrhea.

Antibiotic Prophylaxis↗