Wideband Tympanmetry Results of Bone Cement Ossiculoplasty.

OBJECTIVE: We aim to investigate hearing sensitivity and wideband tympanometry results in bone cement ossiculoplasty cases in present study. STUDY DESIGN: A prospective study. SETTING: Ossiculoplasty patients were grouped according to the anatomical location of bone cement application by surgery note. Ossiculoplasty and tympanoplasty patients were retrospectively invited to the clinic and evaluated. 30 bone cement ossiculoplasty cases as well as 30 Type I tympanoplasty cases (intact ossicular chain) and 30 healthy controls were included in the study and Wideband Tympanometry was performed. Tympanometric peak pressure, equivalent middle ear volume, static admittance, tympanogram width, resonance frequency, average wideband tympanometry and absorbance measurements were analyzed. RESULTS: A statistically significant improvement was observed in the hearing levels of all ossiculoplasty and type I tympanoplasty patients (p < 0.05). Bone cement ossiculoplasty groups demonstrated the remarkable differences than the type I tympanoplasty and control group in Wideband Tympanometry test parameters. In some parameters, malleus-stapes and manubriostapedioplasty groups demonstrated similarities to Type I tympanoplasty and control groups. CONCLUSION: Bone cement is an effective application for ossiculoplasty. Wideband tympanometry is a promising method for the evaluation of the middle ear dynamics.

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.