Characteristics of Hearing Loss in Patients with Gene Variants (Sticker Syndrome Type 1).

Unlabelled: Stickler syndrome type 1 (STL1) is an autosomal dominant genetic disorder that affects connective tissue with highly heterogeneous clinical manifestations, primarily at the ocular, orofacial, skeletal, and auditory levels. The aim of our study was to determine the variability of the auditory phenotype associated with pathogenic variants of the gene and its impact on long-term treatment and follow-up. A retrospective observational study was conducted on patients with a confirmed diagnosis of STL1 treated between 2018 and 2024 at the Otorhinolaryngology Department of the Marqués de Valdecilla University Hospital.

Exploring DIAPH1 gene mutations in patients with sensorineural hearing loss of unknown etiology in Northern Spain.

Objective: To determine the prevalence of variants in the DIAPH1 gene among patients with bilateral sensorineural hearing loss of unknown etiology in northern Spain and to characterize the associated phenotype. As a secondary objective, this study aims to improve genetic counseling by linking genotype to phenotype through clinical characterization of variant carriers.

Patients And Methods: A six-year observational descriptive study was conducted at a tertiary referral center.

Otorhinolaryngological manifestations in patients with eosinophilic granulomatosis with polyangiitis in a single university center.

Objectives: Eosinophilic granulomatosis with polyangiitis (EGPA) is an ANCA-associated vasculitis affecting multiple systems, with common ear, nose and throat (ENT) manifestations. This study aimed to evaluate the most frequent ENT manifestations in EGPA patients and the relationship between nasal polyps and other clinical findings such as ANCA tests and eosinophilia.

Materials And Methods: A retrospective observational study was conducted on EGPA patients diagnosed between 2000 and 2024 at a tertiary hospital using the 2022 ACR/EULAR criteria.

Ménière's Disease With a Prior Diagnosis of Idiopathic Sudden Hearing Loss.

Objective: This study aims to determine the percentage of patients with idiopathic sudden hearing loss later diagnosed with Ménière's disease. It also seeks to identify predictive factors for Ménière's diagnosis and compare treatment responses between first-time Ménière's patients and those with idiopathic sudden hearing loss.

Study Design: A prospective observational study.

Head and neck cancer after liver transplantation in the north of Spain.

Backgrounds: De novo neoplasms after liver transplantation are one of the most frequent causes of morbidity and mortality in the long-term transplanted population. This study aimed to investigate the incidence, clinical characteristics and survival outcomes of de novo head and neck cancer in liver transplant recipients at our tertiary hospital.

Methods: A retrospective observational study was conducted at a tertiary hospital, including 585 patients who underwent liver transplantation at our institution between 1995 and 2024.

Hearing loss secondary to novel variants of the KCNQ4 gene.

Purpose: Heterozygous variants of the KCNQ4 gene are associated with isolated sensorineural hearing loss (DFNA2A). This study aimed to determine the frequency and clinical characteristics of pathogenic, likely pathogenic, and uncertain variants in the KCNQ4 gene among patients with sensorineural hearing loss of unknown origin in North Spain.

Methods: We conducted a prospective observational study of patients with sensorineural hearing loss of unknown etiology at a tertiary hospital over six years.

Cochleo-vestibular phenotype in patients with pathogenic variations in the ACTG1 gene.

Objective: This study aimed to investigate the prevalence of pathogenic, likely pathogenic, and variants of unknown significance in the ACTG1 gene among families with suspected bilateral sensorineural hearing loss of genetic origin. Additionally, the research aimed to elucidate the cochleovestibular phenotype of individuals carrying these variants.

Methods: A cohort of 365 unrelated families with sensorineural hearing loss participated in this study.

Laryngeal Abscess: A 34-Year Review.

This study aimed to investigate the frequency, clinical-epidemiological characteristics, and management of laryngeal abscesses in our hospital setting. We included all patients treated for primary laryngeal abscesses in the Otorhinolaryngology Department of a tertiary hospital over a 34-year period. Patients with abscesses believed to have originated from adjacent regions were excluded.

Hearing Loss Secondary to Gene Mutations.

Objectives: To assess the prevalence and clinical characterization of variants in the gene among individuals with bilateral sensorineural hearing loss of unknown etiology in northern Spain.

Methods: A 6-year (2018-2024) observational, prospective, and descriptive study was conducted on patients with bilateral sensorineural hearing loss at a tertiary hospital. Next generation sequencing using a gene panel for sensorineural hearing loss was performed to detect pathogenic, likely pathogenic, or variants of unknown significance in the gene.

Acute mastoiditis: 30 years review in a tertiary hospital.

Objective: Acute mastoiditis, the most common complication of acute otitis media, is approached in our study, focused on children from the Autonomous Community of Cantabria, Spain. The aim is to analyze its clinical-epidemiological characteristics and propose diagnostic and treatment recommendations.

Study Design/setting: We conducted a 30-year retrospective study on patients under 18 years of age diagnosed with acute mastoiditis in Cantabria.

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.

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the , , and genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype-phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI.

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.

Otologic manifestations of IgG4-related disease.

IgG4-related disease (IgG4-RD) is a systemic autoimmune fibroinflammatory disease characterized by multiorgan infiltration of IgG4-positive plasma cells, fibrosis and vasculopathy that determine dysfunction of the affected organ. This review aims to characterize the otologic manifestations of the disease. We have conducted a systematic review of the biomedical literature published describing cases of IgG4-RD with otologic manifestations.

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.