First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

OBJECTIVE: The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness. METHODS: Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carried out with GJB2 gene sequence analysis and mtDNA m.1555A>G mutation Restriction Fragment Length Polymorphism (RFLP) analysis. Additionally, in a small group of patients, hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) analysis was done out to identify the possible role of copy number changes. RESULTS: In this Turkish cohort, which included 104 index patients and 78 relatives, 33 (31.7%) had Pathogenic/Likely Pathogenic variants. One or more GJB2 sequence variants were identified in 46 (44.1%) of the 104 index patients. The homozygous c.35delG mutation by itself explained the etiology in 24% of our ARSNHL group. In one (5%) of the 20 patients of MLPA group, a hemizygous deletion in POU3F4 gene was detected. CONCLUSION: In our Turkish cohort, we applied a first-line molecular genetic evaluation approach using GJB2 gene sequence analysis and mtDNA m.1555A>G RFLP analysis. This approach revealed the genetic etiology of 44.1% of our index patients. Additionaly, the results of hearing loss MLPA analysis revealed the limited role of copy number changes in this patient group. Furthermore, with a detailed genotype-phenotype association workup, 2 rare cases of Deafness with Palmoplantar Hyperkeratosis and Keratitis-Ichthyosis-Deafness syndrome were reported.

Seeking an innocent method for pediatric septoplasty: in vivo comparison of Cottle's method, radiofrequency and laser in rabbits.

OBJECTIVES: In this study, in vivo histopathological and radiological findings in rabbit septum through laser, radiofrequency (RF) and Cottle's method were investigated. MATERIALS AND METHODS: This study was conducted between November 2007 and February 2008 on 36 New Zealand rabbits aged four-to-six months and weighing 1.5 to 2 kg. Subjects were divided into six equal groups. The first group was defined as the control group. Next four groups consisted of subjects where RF or laser was either applied transmucosal or directly to the cartilage. Cottle's method was used in the sixth group. Histopathological and radiological changes were investigated in each group. RESULTS: Histopathological changes in mucosa were not significantly different from those of control group. However, post-intervention changes in cartilage were significantly different, compared to the control group. The highest mucosal and submucosal reaction and damage in cartilage with ossification was found in Cottle group. It was found that radiofrequency was less damaging to mucosa, creating an equal degree of degeneration as laser in cartilage. CONCLUSION: Study results suggest that Cottle method is not so innocent with a considerable reaction rate, whereas RF and laser do not cause irreparable damage in cartilage and surrounding tissues. Radiofrequency seems superior to laser, as it causes more degeneration in cartilage, but no loss in epithelium even transmucosally. The major problem is the unpredictability of the damage.

Wegener granulomatosis presenting as refractory otitis media: a case report.

Wegener's granulomatosis (WG) is a granulomatous widespread necrotizing vasculitis, sometimes progressing rapidly, characterized by a tendency to involve the upper and lower respiratory tracts, and in most cases, the kidneys. Otologic manifestations may be seen during the course of the disease, however, they are not frequently seen as the first and only presenting feature. The presence of anticytoplasmic antibodies versus neutrophil polymorphonucleate granules (c-ANCA) is highly specific for the diagnosis of WG, being positive in 97% of the cases. The early diagnosis and the timely medical treatment result in high rates of remission of this potentially lethal disease. In this article, we report a case of WG presenting with acute serous otitis media, progressing to suppurative otitis media and granulomas as the first and only symptom, which was refractory to medical therapy during follow-up and which was diagnosed with further examination.