Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based technology was key for the diagnosis and management of this patient.

Background: An early etiological diagnosis of hearing loss positively impacts children's quality of life including language and cognitive development. Even though hearing loss associates with extremely high genetic and allelic heterogeneity, several studies have proven that Next-Generation Sequencing (NGS)-based gene panel testing significantly reduces the time between onset and diagnosis. Methods: In order to assess the clinical utility of our custom NGS GHELP panel, the prevalence of pathogenic single nucleotide variants, indels or copy number variants was assessed by sequencing 171 nuclear and 8 mitochondrial genes in 155 Spanish individuals with hearing loss. Results: A genetic diagnosis of hearing loss was achieved in 34% (52/155) of the individuals (5 out of 52 were syndromic). Among the diagnosed cases, 87% (45/52) and 12% (6/52) associated with autosomal recessive and dominant inheritance patterns respectively; remarkably, 2% (1/52) associated with mitochondrial inheritance pattern. Although the most frequently mutated genes in this cohort were consistent with those described in the literature (GJB2, OTOF or MYO7A), causative variants in less frequent genes such as TMC1, FGF3 or mitCOX1 were also identified. Moreover, 5% of the diagnosed cases (3/52) were associated with pathogenic copy number variants. Conclusion: The clinical utility of NGS panels that allows identification of different types of pathogenic variants-not only single nucleotide variants/indels in both nuclear and mitochondrial genes but also copy number variants-has been demonstrated to reduce the clinical diagnostic odyssey in hearing loss. Thus, clinical implementation of genomic strategies within the regular clinical practice, and, more significantly, within the newborn screening protocols, is warranted.

Obstructive sleep apnea (OSA) is the most common respiratory disease in the developed world and is commonly treated with positive airway pressure therapy (PAP). Recently, hypoglossal nerve (HNS) has been introduced as alternative treatment for OSA patients with PAP intolerance. We report the initial results with HNS treatment from Spain. Patients with OSA and PAP intolerance were screened for HNS treatment with the Inspire (TM) system. After implantation and activation, efficacy was evaluated with polysomnography and indication-specific questionnaires. Adherence data was recorded from the stimulation system. 18 patients (51.83 +/- 11.64 years, 94% male, mean Body Mass Index 27.94 +/- 3.20) received an Inspire (TM) UAS system and were included for analysis. Mean procedure time was 202.83 +/- 64.87 min. and average hospital stay 26.67 +/- 7.54 h. Mean Apnea-Hypopnea-Index was reduced by 63.44% (p <= 0.0001), while daytime sleepiness improved to a mean ESS score of 6.60 +/- 1.25 (p <= 0.0001 Therapy response (AHI reduction > 50% and final AHI < 20), was reached in 64.70 and normalization of daytime sleepiness (final ESS score < 10) in 100% of patients. Therapy adherence was 6.32 +/- 1.71 h per night. HNS is a safe and leads to effective OSA control and symptom normalization in selected OSA patients with PAP intolerance. Stimulation therapy is well accepted, as demonstrated by high adherence. Implementation of HNS therapy into an OSA program in Spain is feasible with acceptable learning curve and moderate resource utilization.

Introduction: Cochlear implants have been able to treat some types of hearing loss, but those related to cochlear nerve impairment made it necessary to find new ways to manage these deficits; leading to auditory brainstem implants (ABI). Aim: Our objective is to present the clinical profile of patients treated through an ABI and the results obtained from 1997 to 2017. Material and methods: On the one hand, patients with statoacoustic nerve tumours (VIIIcranial nerve) were selected, and on the other hand, patients withoutVIII tumours with congenital malformations of the inner ear. Before and after the placement of the ABI, hearing was assessed through tonal audiometry, from which the PTA (Pure Tone Average) and the CAP (Categories of Auditory Performance) scale were obtained. Results: A total of 20 patients undergoing ABI surgery were included. Eight were of tumour cause (40%) and 12 non-tumour (60%). In 15 subjects (75%) a suboccipital approach was performed and in 5 (25%) translabyrinthine. The mean of active electrodes before the implantation of Cochlear® (Nucleus ABI24) was 13/21 (61.90%) versus 8.5/12 (70.83%) of the Med-el® (ABI Med-el). An improvement in the mean PTA of 118.49dB was found against 46.55dB at 2years. On the CAP scale, values of1 were obtained in the preimplantation and of 2.57 (1-5) in the 2-year revision. Conclusion: The ABI is a safe option, and with good hearing results when the indication is made correctly.

Purpose To compare the surgical and audiological outcomes with two perimodiolar electrode arrays (Nucleus 512-Contour Advance (R) y Nucleus 532-Slim Perimodiolar (R)) and a straight electrode array (Nucleus 422/522). Methods Patients were retrospectively selected from our cochlear implant program database. Only patients with a history of bilateral, sensorineural postlingually profound hearing loss who underwent cochlear implant surgery with either a N512, a N532 or a N422 were included. Throughout a year of follow-up, pure tone audiometry (PTA), speech perception, Impedances and T-C Thresholds levels were analyzed. Surgical data were also analyzed. Results 66 patients were included (19-CI532, 20-CI512 and 27-CI422). The most common type of cochlea access with the N532, N512 and N422 was through an extended round window, a promontorial cochleostomy and a pure round window, respectively. No significant differences were observed after 12 months in Mean PTA and Speech recognition. No significant differences were seen in the levels of hearing preservation at frequencies of 250 and 500. The average values of the impedances were significantly higher in the CI group N532 and N422 than in the N512. The mean values of the T and C levels were significantly lower in the CI groups N532 and N422 compared with the N512. Conclusions No significant differences were observed after 12 months in Mean PTA and Speech recognition; however, a faster acquisition of auditory results were observed in the group of patients treated with the CI N532. The type of electrode array influences in the type of cochleostomy.

Objective: To investigate the main effects of some testing and analysis variables on clinically quantified visually enhanced vestibulo-ocular reflex (VVOR) and vestibulo-ocular reflex suppression (VORS) results using video head impulse test. Methods: This prospective observational clinical study included 19 healthy participants who underwent the VVOR and VORS tests. The effect of demographic variables, head oscillation frequency, rotation direction, visual acuity and analysis time window width and location of the recorded tests on the quantified results of both VVOR and VORS were evaluated. And specifically, for the VORS test the effect of cognitive reinforcement of the participant during testing was evaluated. Results: A statistically significant difference was observed among the VVOR, non-reinforced VORS, and reinforced VORS tests for mean gain values of 0.91 ± 0.09, 0.6 ± 0.15, and 0.57 ± 0.16, respectively (p < 0.001). The optimized linear mixed-effect model showed a significant influence of frequency on the gain values for the reinforced and non-reinforced VORS tests (p = 0.01 and p = 0.004, respectively). Regarding the gain analysis method, statistically significant differences were found according to the short time interval sample location of the records for the initial location of the VVOR test (p < 0.006) and final location of the reinforced VORS test (p < 0.023). Conclusion: Significant differences were observed in the gain values according to VVOR and VORS testing. Head oscillation frequency is a significant factor that affects the gain values, especially in VORS testing. Moreover, in VORS testing, participant concentration has a significant effect on the test for obtaining suppression gain values. When a short time interval sample is considered for VVOR and VORS testing, intermediate time samples appear the most adequate for both tests. Significance: The quantified visually enhanced vestibulo-ocular reflex (VVOR) and vestibulo-ocular reflex suppression (VORS) tests have recently been added to the assortment of available clinical vestibular tests. However, despite the clinical validity of these quantified tests that appear to be of increasing clinical interest, the effects of most of the clinical testing methods and mathematical variables are not well defined. In this research we describe what are the main collecting and analysis variables that could influence to the VVOR and VORS tests. Specially for VORS test, participant concentration on test tasks will have positive effect on the measured vestibulo-ocular reflex (VOR) suppression.

We present a case report of a 25-year-old male patient who was complaining about a sensation and noise described as a ''sponge crunching'' in the right preauricular region and right ear that was more noticeable when inflating the cheeks. Under the clinical suspicion of a pneumoparotid case, a CT scan was performed. The study revealed the presence of air in the ductal system and within the gland. The patient was diagnosed with pneumoparotid and was treated conservatively. Herein, we review the literature and discussion the management of this uncommon condition. © 2020

Introduction Chronic rhinosinusitis (CRS) is a highly prevalent pathology in our society. Due to the prevalence of this condition and to the persisting symptoms despite an appropriate medical treatment, surgical techniques are often required. Lately, minimal invasive techniques have been described, such as lacrimal diversion devices (LDDs). This technique offers a fast and convenient choice for delivery of sinus irrigation and topical medication. Objective We aimed to describe our experience with LDDs and evaluate the safety and effectiveness of the procedure in patients with moderate to severe CRS without nasal polyposis (CRSsNP) and persistent symptomatology despite medical therapy. Methods A total of 7 patients underwent bilateral lacrimal stents placement in the operating room. A retrospective observational study was conducted. The Sino-Nasal Outcome Test-20 (SNOT-20) survey was performed and the score obtained was compared before and 1month after the procedure. Results The LDDs were used for an average of 80 days. During the follow-up, only three patients had a mild complication with the device (granuloma in the punctum, obstruction, and early extrusion). The mean baseline SNOT-20 score dropped significantly ( p =0.015) from 25.85 to 11.57 (mean: - 14.29) 1month after the procedure. Conclusion According to our experience and results, the use of LDD is a novel, feasible, and less invasive technique to treat refractory CRS. It reduces the risk of mucosal stripping, provides short-term outcomes, and the surgical procedure does not require advanced training in endoscopic sinus surgery. Moreover, it can be performed in-office under local anesthesia or sedation.