High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.

Objective: Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation. Methods: Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory. Results: Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing. Conclusion: This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations. Level of evidence: Level 4 (cohort study).

"Benefits of the pedicled osteoplastic flap as a surgical approach of mastoidectomy in cochlear implant surgery".

OBJECTIVE: To evaluate the esthetic and functional results of an osteoplastic flap for mastoid cavity closure in cochlear implant surgery. STUDY DESIGN: Double-blind, prospective, randomized clinical trial. SETTING: tertiary referral center. INTERVENTION(S): On hundred and twenty-six patients were randomized in 2 groups for cochlear implant surgery. Cases (n: 63) underwent simple mastoidectomy using an anteriorly pedicled osteoplastic flap for mastoid closure. In controls (n: 63), a traditional periosteal flap was used. Evaluation with the POSAS questionnaire was performed 1 year after surgery to assess surgical wound esthetics. Sixteen patients from each group had postoperative CT-scans and wideband tympanometry to assess mastoid aeration and middle ear absorbance. Gender and time after surgery were correlated. MAIN OUTCOME MEASURE(S): Evaluation of the quality of the surgical wound with the application of a questionnaire validated in the medical literature and translated into Portuguese language called POSAS, considering the perception of the blinded patient and doctor regarding the surgical technique proceeded. A lower POSAS score suggests better esthetics of the surgical wound. Secondary outcomes are volumetric measurement of aeration inside mastoid cavity using 3D computer tomography exam, which aims to analyze the influence of fibrocicatricial retraction in the surgical wound into the mastoid and the interference of its aeration volume in the absorption of sound in the middle ear, using the wideband tympanometry exam. RESULTS: The POSAS questionnaire in the Case group showed a lower level of local pain and itchiness, a skin color and thickness more similar to the surrounding skin and less irregularity and stiffness, with no influence from time after surgery and gender compared to the Control group. The median tomographic volume was 6.37 cc in the cases and 4.60 cc in controls. Wideband tympanometry showed general smaller sound absorbance in the Case group results, specially, at 1000 Hz frequency. No intraoperative or postoperative complications were observed with the osteoplastic flap. CONCLUSIONS: This technique is an effective and safe alternative to alleviate common problems of mastoid surgery for cochlear implantation. In addition to esthetic benefits, it has less interference in middle ear physiology of sound absorbance and less fibrous tissue into the mastoid cavity during the follow-up of more than 1 year.

Mastoid obliteration and reconstruction techniques: A review of the literature.

OBJECTIVE: To review the published literature related to the different obliteration and reconstruction techniques in the management of the canal wall down mastoidectomy. METHODS: A PubMed (Medline) and LILACS databases as well as crossed references search was performed with the following Mesh terms: "cholesteatoma", "cholesteatoma-middle ear", "otitis media", "otitis media, suppurative", "mastoiditis", "mastoidectomy", "canal wall down mastoidectomy", "radical mastoidectomy", "mastoid obliteration" and crossed references. Inclusion criteria were adult patients subject to mastoid cavity obliteration and posterior canal wall reconstruction. The technique and materials used, anatomic and functional results, complications, recurrence rates, and changes in quality of life, were analyzed. A total of 94 articles were screened, 38 were included for full-text detailed review. RESULTS: Twenty-one articles fulfilled the inclusion criteria. Techniques and materials used for canal wall reconstruction, tympanoplasty, and ossiculoplasty were varied and included autologous, biosynthetic, or both. Auditory results were reported in 16 studies and were inconsistent. Three studies reported improvement in the quality of life using the GBI scale. Follow-up time ranged from 1 to 83 months. Eleven articles used imaging studies to evaluate postoperative disease recurrence. The highest recurrence rate reported for cholesteatoma after obliteration was 19%. The most frequently reported complications were retraction pockets and transient otorrhea. CONCLUSION: Plenty of techniques combining grafts and other materials have been used to overcome mastoidectomy cavity problems. So far, it is still not possible to standardize an ideal procedure. The available level of evidence for this topic is low and limited.

Preservation of the facial and lower cranial nerves in glomus jugulare tumor surgery: modifying our surgical technique for improved outcomes.

PURPOSE: To describe the neurological results obtained in six patients with large Fisch C glomus jugulare tumors (GJT) in which a less aggressive, nerve-preserving surgical strategy was used to reduce surgical morbidity. METHODS: Prospective study of six patients with Fisch C GJT who underwent surgery in a tertiary care referral center from February 2015 to August 2017 with an average follow-up of 18 months. The intervention is the surgical technique used and the main outcome measures are recurrence and the functional preservation of the facial and lower cranial nerves. RESULTS: Gross total removal was obtained in the six patients with preservation of the medial wall of the jugular bulb protecting the lower cranial nerves. After follow-up, we obtained a House-Brackmann (H-B) grade II in three patients who were managed with an inferior facial nerve transposition. One patient managed with a facial bridge technique preserved a normal facial function and two patients who presented a H-B III before surgery went to H-B V after surgery and recovered to a H-B III after 4 months. Four patients were presented with dysphagia after surgery and required nasogastric tube placement. The average time for removal with return to normal oral feeding was 4.3 weeks. Three patients with preoperative Xth nerve dysfunction showed an adequate compensation of the opposite vocal fold in the postoperative period without dysphonia or aspiration. CONCLUSION: The surgical techniques used in these patients provided good functional preservation without recurrence after an 8-30-month follow-up.

Evaluating Intracochlear Trauma after Cochlear Implant Electrode Insertion through Middle Fossa Approach in Temporal Bones.

Objective To evaluate cochlear trauma after cochlear implant insertion through a middle fossa approach by means of histologic and imaging studies in temporal bones. Study Design Prospective cadaveric study. Setting University-based temporal bone laboratory. Subjects and Methods Twenty fresh-frozen temporal bones were implanted through a middle cranial fossa basal turn cochleostomy. Ten received a straight electrode and 10 a perimodiolar electrode. Samples were fixed in epoxy resin. Computed tomography (CT) scans determined direction, depth of insertion, and the cochleostomy to round window distance. The samples were polished by a microgrinding technique and microscopically visualized to evaluate intracochlear trauma. Descriptive and analytic statistics were performed to compare both groups. Results The CT scan showed intracochlear insertions in every bone, 10 directed to the middle/apical turn and 10 to the basal turn. In the straight electrode group, the average number of inserted electrodes was 12.3 vs 15.1 for the perimodiolar group ( U = 78, P = .0001). The median insertion depth was larger for the perimodiolar group (14.4 mm vs 12.5 mm, U = 66, P = .021). Only 1 nontraumatic insertion was achieved and 14 samples (70%) had important trauma (Eshraghi grades 3 and 4). No differences were identified comparing position or trauma grades for the 2 electrode models or when comparing trauma depending on the direction of insertion. Conclusion The surgical technique allows a proper intracochlear insertion, but it does not guarantee a correct scala tympani position and carries the risk of important trauma to cochlear microstructures.

Endolymphatic Sac Surgery for Ménière's Disease - Current Opinion and Literature Review.

Introduction The endolymphatic sac is thought to maintain the hydrostatic pressure and endolymph homeostasis for the inner ear, and its dysfunction may contribute to the pathophysiology of Ménière's disease. Throughout the years, different surgical procedures for intractable vertigo secondary to Ménière's disease have been described, and though many authors consider these procedures as effective, there are some who question its long-term efficacy and even those who think that vertigo control is achieved more due to a placebo effect than because of the procedure itself. Objective To review the different surgical procedures performed in the endolymphatic sac for the treatment of Ménière's disease. Data Sources PubMed, MD consult and Ovid-SP databases. Data Synthesis We focus on describing the different surgical procedures performed in the endolymphatic sac, such as endolymphatic sac decompression, endolymphatic sac enhancement, endolymphatic sac shunting and endolymphatic duct blockage, their pitfalls and advantages, their results in vertigo control and the complication rates. The senior author also describes his experience after 30 years of performing endolymphatic sac surgery. Conclusions The endolymphatic sac surgery, with all its variants, is a good option for patients with incapacitating endolymphatic hydrops, providing a high percentage of vertigo control and hearing preservation.

Superior Semicircular Canal Dehiscence Syndrome - Diagnosis and Surgical Management.

Introduction Superior semicircular canal dehiscence syndrome was described by Minor et al in 1998. It is a troublesome syndrome that results in vertigo and oscillopsia induced by loud sounds or changes in the pressure of the external auditory canal or middle ear. Patients may present with autophony, hyperacusis, pulsatile tinnitus and hearing loss. When symptoms are mild, they are usually managed conservatively, but surgical intervention may be needed for patients with debilitating symptoms. Objective The aim of this manuscript is to review the different surgical techniques used to repair the superior semicircular canal dehiscence. Data Sources PubMed and Ovid-SP databases. Data Synthesis The different approaches are described and discussed, as well as their limitations. We also review the advantages and disadvantages of the plugging, capping and resurfacing techniques to repair the dehiscence. Conclusions Each of the surgical approaches has advantages and disadvantages. The middle fossa approach gives a better view of the dehiscence, but comes with a higher morbidity than the transmastoid approach. Endoscopic assistance may be advantageous during the middle cranial fossa approach for better visualization. The plugging and capping techniques are associated with higher success rates than resurfacing, with no added risk of hearing loss.

[Submandibular gland resection for the management of sialorrhea in paediatric patients with cerebral palsy and unresponsive to type A botullinum toxin. Pilot study]. / Resección de glándulas submandibulares para manejo de sialorrea en pacientes pediátricos con parálisis cerebral y poca respuesta a la toxina botulínica tipo A. Estudio piloto.

BACKGROUND: Sialorrhoea has a prevalence of between 10% and 58% in patients with cerebral palsy. Amongst the invasive treatments, botulinum toxin-A injections in submandibular and parotid glands and various surgical techniques are worth mentioning. There are no studies in Mexico on the usefulness of surgery to manage sialorrhoea. OBJECTIVE: To evaluate the usefulness of submandibular gland resection in improving sialorrhoea in patients with cerebral palsy and with a poor response to botulinum toxin. MATERIAL AND METHODS: Experimental, clinical, self-controlled, prospective trial was conducted to evaluate the grade of sialorrhoea before surgery, and 8, 16 and 24 weeks after. Statistical analysis was performed using a non-parametric repetitive measure assessment, considering a p < 0.05 as significant. Complications and changes in salivary composition were evaluated. RESULTS: Surgery was performed on 3 patients with severe sialorrhoea, and 2 with profuse sialorrhoea, with mean age of 10.8 years. The frequency and severity of sialorrhoea improved in the 5 patients, with mean of 76.7 and 87.5% improvement, respectively. The best results were seen after 6 months of surgery, with a statistically significant difference between the preoperative stage and 6 months after the procedure (p = 0.0039, 95% CI). No significant differences were observed in complications, increase in periodontal disease or cavities, or salivary composition. CONCLUSIONS: Submandibular gland resection is an effective technique for sialorrhoea control in paediatric patients with cerebral palsy, with a reduction in salivary flow greater than 80%. It has a low chance of producing complications compared to other techniques. It led to an obvious decrease in sialorrhoea without the need to involve other salivary glands in the procedure.