Publications by authors named "Jose A Lopez-Escamez"

Objective: To review recent advances in genetic diagnosis of sensorineural hearing loss (SNHL) using gene panels, exome, and genome sequencing.

Design: A scoping review. Articles published from January 2022 to May 2024 on gene panels, exome, or genome sequencing for early SNHL diagnosis were reviewed.

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Article Synopsis
  • Migraines (MI) are a common brain problem affecting about 20% of people worldwide, and some people with migraines also have balance issues, which is called vestibular migraine (VM).
  • Meniere's disease (MD) is another condition that affects the inner ear and can cause spinning sensations, ringing in the ears, and hearing loss, which sometimes overlaps with vestibular migraine symptoms.
  • A study compared blood samples from people with migraines, vestibular migraines, Meniere's disease, and healthy individuals, finding that migraines and vestibular migraines have similar immune responses, while Meniere's disease shows different immune reactions and can be divided into two types based on activity.
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Purpose Of Review: The aim of this work is to summarize the main advances on the pathophysiology, diagnosis, and treatment of Meniere's disease (MD).

Recent Findings: Different immune responses to biotic stimuli may trigger MD, with subgroups identified based on cytokine and genetic profile, suggesting potential benefits from immune therapy, including antiallergic medication. Genetic and epigenetic research, along with imaging studies, reveal the complexity of MD, involving inflammation, immunity, and metabolic processes.

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Background: DNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss, including age-related hearing impairment or Meniere disease. The purpose of this systematic review is to critically assess the evidence supporting a functional role of DNA methylation in phenotypes associated with hearing loss.

Results: The search strategy yielded a total of 661 articles.

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Article Synopsis
  • - The study investigates the out-of-pocket (OOP) expenses associated with tinnitus in several European countries, revealing significant costs that vary by severity of the condition.
  • - Participants reported annual OOP expenses averaging 368€ for slight, 728€ for moderate, and 1,492€ for severe tinnitus, totaling an estimated 565€ for all tinnitus sufferers due to healthcare visits, treatments, medications, and alternative medicine.
  • - The findings highlight the substantial economic burden of tinnitus, comparable to other major disabilities, indicating a willingness among individuals to invest significant monthly income for relief, and suggesting the total expenses exceed 17 billion € across the countries studied.
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Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of familial MD (FMD) has been reported, being 9-10% in Europeans compared to 6% in East Asians. A broad genetic heterogeneity in FMD has been described, OTOG being the most common mutated gene, with a compound heterozygous recessive inheritance.

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Purpose: To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and rare variants in the ANK2 gene.

Methods: We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and Auditory Middle Latency Responses (AMLR)), psychoacoustic and psychometric assessment by a Visual Analog Scale (VAS) for tinnitus annoyance, the Tinnitus Handicap Inventory (THI), the test on Hypersensitivity to Sound (THS-GÜF), the Patient Health Questionnaire (PHQ-9), the Hospital Anxiety and Depression Scale (HADS) and the Montreal Cognitive Assessment (MoCA).

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Article Synopsis
  • * A study analyzed the RNA of 45 MD patients and 15 healthy individuals, identifying differentially expressed genes that suggest a connection to the immune response in MD.
  • * Patients were categorized based on their IL-1β levels, revealing a proinflammatory subgroup with increased IL-6 and certain immune cells, indicating a potential target for future treatments.
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Purpose: To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.

Methods: After a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved.

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Objective: To assess the evidence supporting the heritability and genetic basis of sudden sensorineural hearing loss (SSNHL).

Data Source: Records were extracted from PubMed, Scopus, and Cochrane databases.

Review Methods: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL.

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Meniere disease (MD) is a debilitating disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. Severe tinnitus, which occurs in around 1% of patients, is a multiallelic disorder associated with a burden of rare missense single nucleotide variants in synaptic genes. Rare structural variants (SVs) may also contribute to MD and severe tinnitus.

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Objective: Report three cases of simultaneous triple semicircular canal occlusion (TSCO) and cochlear implantation (CI) as the treatment of intractable Meniere's disease (MD).

Case Reports: Patients with MD can present occasionally with intractable vertigo and profound sensorineural hearing loss (SNHL). TSCO and CI have been proposed to control vertigo and restore profound deafness in patients with MD separately.

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Objectives: The study aimed to assess the relationship of tinnitus with hyperacusis with cognitive impairment as indicated by the Montreal Cognitive Assessment (MoCA) tool.

Methods: This multicenter cross-sectional study included individuals with chronic tinnitus from the "Unification of Treatments and Interventions for Tinnitus Patients" (UNITI) database. Participants were recruited from four different tertiary clinical centers located in Athens and Granada (Mediterranean group), as well as Berlin and Regensburg (German group).

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Purpose Of Review: This review discusses the recent developments on the understanding of epidemiology and genetics of Meniere's disease.

Recent Findings: Meniere's disease has been shown to be associated with several comorbidities, such as migraine, anxiety, allergy and immune disorders. Recent studies have investigated the relationship between environmental factors and Meniere's disease such as air pollution, allergy, asthma, osteoporosis or atmospheric pressure, reporting specific comorbidities in East Asian population.

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Background: Tinnitus is a leading cause of disease burden globally. Several therapeutic strategies are recommended in guidelines for the reduction of tinnitus distress; however, little is known about the potentially increased effectiveness of a combination of treatments and personalized treatments for each tinnitus patient.

Methods: Within the Unification of Treatments and Interventions for Tinnitus Patients project, a multicenter, randomized clinical trial is conducted with the aim to compare the effectiveness of single treatments and combined treatments on tinnitus distress (UNITI-RCT).

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Pediatric Acute Myeloid Leukemia (AML) is a rare and heterogeneous disease characterized by a high prevalence of gene fusions as driver mutations. Despite the improvement of survival in the last years, about 50% of patients still experience a relapse. It is not possible to improve prognosis only with further intensification of chemotherapy, as come with a severe cost to the health of patients, often resulting in treatment-related death or long-term sequels.

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Article Synopsis
  • - Ménière's Disease (MD) is an inner ear disorder characterized by hearing loss, vertigo episodes, and tinnitus, often occurring alongside other conditions like migraines and asthma.
  • - The disease has genetic links, with about 10% of cases being familial and associated with specific genes, indicating that certain proteins are crucial to its development.
  • - Recent research suggests that inflammation, sodium intake, and the balance of ions in the ear play significant roles in the progression and symptoms of MD, impacting hair cell function and potentially triggering vertigo and changes in tinnitus.
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Objective: To analyze evidence supporting an association between immune-related diseases and Ménière's disease (MD) since it has long been thought to be related to autoimmune disorders and allergies.

Data Sources: We retrieved records from Pubmed, Web of Science, Scopus, and Cochrane Library to identify studies published between January 2002 and October 2022.

Review Methods: Articles were independently assessed by 2 reviewers and verified by a third reviewer.

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Background: Meniere Disease (MD) is an inner ear syndrome, characterized by episodes of vertigo, tinnitus and fluctuating sensorineural hearing loss. The pathological mechanism leading to sporadic MD is still poorly understood, however an allergic inflammatory response seems to be involved in some patients with MD.

Objective: Decipher an immune signature associated with the syndrome.

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Vertigo due to vestibular dysfunction is rare in children. The elucidation of its etiology will improve clinical management and the quality of life of patients. Genes for vestibular dysfunction were previously identified in patients with both hearing loss and vertigo.

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Genetic sensorineural hearing loss and Meniere disease have been associated with rare variations in the coding and non-coding region of the human genome. Most of these variants were classified as likely pathogenic or variants of unknown significance and require functional validation in cellular or animal models. Given the difficulties to obtain human samples and the raising concerns about animal experimentation, human-induced pluripotent stem cells emerged as cellular models to investigate the interaction of genetic and environmental factors in the pathogenesis of inner ear disorders.

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Meniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. The phenotype is variable, and it may be associated with other comorbidities such as migraine, respiratory allergies, and several autoimmune disorders. The condition has a significant heritability according to epidemiological and familial segregation studies.

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