Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.

Objective: Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1.

Hearing loss secondary to variants in the OTOF gene.

Objective: Genetic variants in the OTOF gene are responsible for non-syndromic hearing loss with an autosomal recessive inheritance pattern. The objective of our work was to evaluate the clinical characteristics of patients with biallelic pathogenic variants in OTOF and their evolution after treatment.

Methods: A cohort of 124 patients with prelingual hearing loss, studied from 1996 to 2023, was included in this study.

Sudden hearing loss secondary to syphilis.

Background: Syphilis is a sexually transmitted disease caused by the spirochete Treponema pallidum, whose incidence has increased significantly in recent years. Some patients may develop sudden hearing loss (SHL) against the background of otosyphilis.

Objectives: The objective of our study was to determine whether routine lues serology is useful in patients presenting with sudden hearing loss.

Sudden Hearing Loss as an Initial Symptom of Vestibular Schwannoma.

Objective: This study aims to determine the prevalence of vestibular schwannoma (VS) among patients presenting with sudden hearing loss (SHL) and to characterize the clinical features of individuals diagnosed with both VS and SHL.

Methods: We conducted an observational retrospective review at a tertiary referral center, spanning a 30-year period, focusing on patients diagnosed with SHL where VS was confirmed as the underlying cause. We included patients meeting these criteria while excluding those lacking imaging or with a pre-existing diagnosis of VS.

Checklist of the temporal bone and lateral skull base CT-scan.

Computed tomography scan of the temporal bone is a fundamental imaging modality for both the diagnosis and treatment of a wide range of pathologies affecting this complex structure. Temporal bone computed tomography scan provides a more detailed depiction of bone structures, compared with magnetic resonance imaging and, for this reason computed tomography scan is the imaging modality of choice in the planning of otological surgery. The aim of this article is to present a checklist to allow the otolaryngologist to assess systematically and in an organized manner the main anatomical landmarks, anatomical variants, as well as the most common postoperative surgical changes, which can be identified before any safe otological surgery.

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Hypothesis: Adult genetic sensorineural hearing loss (SNHL) may be underestimated.

Background: The diagnosis of genetic hearing loss is challenging, given its extreme genetic and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of next-generation sequencing (NGS) in the etiological diagnosis of adult-onset SNHL.

A Predictive Model of Bilateral Sensorineural Hearing Loss in Meniere Disease Using Clinical Data.

Objectives: Meniere disease (MD) is defined by a clinical syndrome of recurrent attacks of spontaneous vertigo associated with tinnitus, aural fullness, and sensorineural hearing loss (SNHL). Most patients have unilateral SNHL, but some of them will develop contralateral SNHL during the course of the disease. Several studies have reported a frequency of 2 to 73% SNHL in the second ear, according to the duration of disease and the period of follow-up.

Radixin modulates the function of outer hair cell stereocilia.

The stereocilia of the inner ear sensory cells contain the actin-binding protein radixin, encoded by RDX. Radixin is important for hearing but remains functionally obscure. To determine how radixin influences hearing sensitivity, we used a custom rapid imaging technique to visualize stereocilia motion while measuring electrical potential amplitudes during acoustic stimulation.

Exploring the frontiers of vestibular migraine: A case series.

Introduction: Patients with episodic vestibular syndrome (EVS) whose symptoms resemble those of vestibular migraine (VM) but who do not meet the criteria for it are common.

Objective: To describe those patients suffering from EVS in whom defined etiologies have been ruled out in order to determine if their symptoms can be linked to VM.

Material And Methods: Prospective multicenter study.

In-office endoscopic nasal polypectomy: prospective analysis of patient tolerability and efficacy.

Purpose: In-office rhinologic procedures have become popularised in the last decade, especially in North America. Endoscopic nasal polypectomy under local anaesthesia offers instant relief in selected patients with obstructive chronic rhinosinusitis with nasal polyps. We aimed to analyse patient tolerability during the procedure while measuring its effectiveness.

Subjective benign paroxysmal positional vertigo in patients with osteoporosis or migraine.

Introduction: Subjective benign paroxysmal positional vertigo is a form of benign paroxysmal positional vertigo in which during the diagnostic positional maneuvers patients only present vertigo symptoms with no nystagmus.

Objective: To study the characteristics of subjects with subjective benign paroxysmal positional vertigo.

Methods: Prospective multicenter case-control study.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors.

Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

Meniere's disease (MD) is a rare disorder characterized by episodic vertigo, sensorineural hearing loss, tinnitus, and aural fullness. It is associated with a fluid imbalance between the secretion of endolymph in the cochlear duct and its reabsorption into the subarachnoid space, leading to an accumulation of endolymph in the inner ear. Epidemiological evidence, including familial aggregation, indicates a genetic contribution and a consistent association with autoimmune diseases (AD).

Clinical Subgroups in Bilateral Meniere Disease.

Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5 to 50%, and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD (BMD) to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of BMD and to develop new treatments.

Communication benefits of bilateral cochlear implantation. Retrospective study in 12-year-old children.

Introduction And Objectives: Some studies suggest that simultaneous or sequential cochlear implantation in a short period of time offers additional benefits. There is controversy regarding the existence of an age limit after which a second implantation offers less benefit for the acquisition of communication skills. The objectives of this study were to confirm that sequential cochlear implantation offers benefits compared to unilateral implantation and to study whether, at 12 years of age, there are significant differences regarding the age at the time of the second implantation.

[Bilateral cochlear implants in children: acquisition of binaural hearing].

Introduction And Objectives: Several studies have indicated the benefit of bilateral cochlear implants in the acquisition of binaural hearing and bilateralism. In children with cochlear implants, is it possible to achieve binaurality after a second implant? When is the ideal time to implant them? The objective of this study was to analyse the binaural effect in children with bilateral implants and the differences between subjects with simultaneous and sequential implants with both short and long intervals.

Patients And Methods: There were 90 patients between 1 and 2 years of age (the first surgery), implanted between 2000 and 2008.

Horner's syndrome after neck surgery.

Horner's syndrome (oculosympathetic paresis) is characterised by the classic triad of ipsilateral palpebral ptosis, pupillary miosis and facial anhidrosis. The syndrome arises from the interruption of sympathetic innervation to the eye and adnexa at varying levels. It is a rare complication of neck surgery.