Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories, ⩽40 years, 40-50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.

Objective. To investigate the treatment outcome of a simultaneous labyrinthectomy and cochlear implantation in patients with single-sided Ménière's disease and profound sensorineural hearing loss. Study Design. Prospective study. Method. Five patients with single-sided Ménière's disease with active vertigo and functional deafness were included. In all cases, simultaneous cochlear implantation combined with labyrinthectomy surgery was performed. The outcome has been evaluated by the Dizziness Handicap Inventory (DHI) and speech recognition. Results. The combined labyrinthectomy and cochlear implantation led in all patients to a highly significant reduction of dizziness up to a restitutio ad integrum. After activation of the cochlear implant and rehabilitation, a mean monosyllabic speech understanding of 69% at 65 dB was observed. Conclusion. For patients with single-sided Ménière's disease and profound sensorineural hearing loss the simultaneous labyrinthectomy and cochlear implantation are efficient method for the treatment of vertigo as well as the rehabilitation of the auditory system.

Meningo-encephalocoele of the temporal bone, also known as fungus cerebri, is a rare occurrence in clinical practice. We present a series of 13 patients with chronic otitis media who suffered brain herniation into the mastoid cavity. We also discuss the presentation and management of brain herniation with or without cerebrospinal fluid leak.Study design: Retrospective. Methods: Among 963 cases undergoing revision mastoid surgery, 13 patients suffered brain herniation. These cases were identified and analysed.Results: All 13 patients' initial diagnosis was chronic suppurative otitis media with cholesteatoma, and all had undergone previous mastoid surgery resulting in a defect in the tegmen and weakening of the dura mater. The revision procedures performed included 10 (76.9 per cent) modified radical mastoidectomies without ossicular chain reconstruction and one (7.6 per cent) modified radical mastoidectomy with ossicular chain reconstruction; two (15.3 per cent) patients required a blind sac closure. Brain herniation and/or cerebrospinal fluid leak were repaired by a transmastoid + minicraniotomy procedure.Conclusions: Injury to the tegmen and dura should be avoided during surgery for chronic middle-ear disease. Cerebrospinal fluid leaks, if encountered, should be managed in the same surgical session. The transmastoid approach is helpful in repairing defects smaller than 1 cm in diameter, whereas the combined transmastoid-minicraniotomy approach provides good access when closing defects larger than 1 cm in diameter and also enables auto-calvarial grafting.

Background Tympanoplasty is the well-established procedure for closure of perforations of tympanic membrane. Study Design This study was a prospective comparative study. Objective The objective of this study was to compare the hearing improvement and graft uptake rate between dry and wet tympanoplasty performed on tubotympanic type of chronic suppurative otitis media. Materials and Methods One hundred forty patients with tubotympanic type of chronic otitis media were selected and categorized into dry and wet ears. Tympanoplasty was performed using temporalis fascia by underlay technique in all cases. Postoperatively, graft uptake rate and hearing improvement were analyzed. Results The graft uptake rate was equal in both dry and wet ears, which was statistically insignificant. There was no statistically significant difference in the hearing improvement between the dry ears and wet ears (χ – 2.39, p = 0.122). Conclusion Factors such as age, sex, and status of the contralateral ear and wet ear did not have any impact on the postoperative graft uptake of tympanoplasty. There was no difference in the graft uptake between the dry and wet ears and there was no statistically significant difference between hearing improvement in both and wet ears.

Otosclerosis is an early-middle adult life genetic disease affecting bone remodelling in the ear. Current knowledge of otosclerosis as an inherited disease dates to the mid-19th century, and we report here an attempt to understand the genetics of otosclerosis and detect its heterogeneity. The analysis was conducted on 151 otosclerotic families. The results of our study indicate that while heredity plays an important role in the manifestation of the disease a substantial portion of otosclerotic cases could arise due to non-genetic causes.