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18 pages, 725 KB  
Article
Diagnostic Yield of the New Bárány Society Criteria for Pediatric Episodic Vestibular Syndrome
by Mar Rey-Berenguel, Javier Vallecillo-Zorrilla, Edith Karelly Burgueño-Uriarte, María del Carmen Olvera-Porcel and Juan Manuel Espinosa-Sanchez
J. Clin. Med. 2025, 14(17), 5971; https://doi.org/10.3390/jcm14175971 - 23 Aug 2025
Viewed by 581
Abstract
Background/Objectives: Pediatric episodic vestibular syndrome (EVS) is increasingly recognized, with recurrent vertigo of childhood (RVC) and vestibular migraine of childhood (VMC) being the most prevalent disorders. In 2021, the Bárány Society and the International Headache Society proposed new diagnostic criteria for RVC, [...] Read more.
Background/Objectives: Pediatric episodic vestibular syndrome (EVS) is increasingly recognized, with recurrent vertigo of childhood (RVC) and vestibular migraine of childhood (VMC) being the most prevalent disorders. In 2021, the Bárány Society and the International Headache Society proposed new diagnostic criteria for RVC, VMC, and probable VMC (pVMC), replacing the older term benign paroxysmal vertigo (BPV). This study aimed to evaluate the clinical applicability of these new criteria. Methods: We conducted a cross-sectional study at a pediatric neurotology clinic within a tertiary hospital, including patients under 18 years with episodic vestibular symptoms evaluated between 2018 and 2025. All patients underwent a standardized neuro-otological assessment. Diagnoses were assigned using both the 2018 ICHD-3 and the 2021 Bárány criteria. Patients who did not fulfill any of the three new diagnostic categories, nor met criteria for any other specific vestibular disorder, were grouped into an undetermined category referred to as episodic vestibular syndrome without hearing loss (EVSw/oHL). Demographic and clinical variables were compared across diagnostic groups using non-parametric and chi-squared tests. Results: Among the 202 children evaluated, 109 met the inclusion criteria and were classified as RVC (n = 55), VMC (n = 23), pVMC (n = 13), or EVSw/oHL (n = 18). All patients previously diagnosed with BPV met the new criteria for RVC. Application of the Bárány criteria significantly reduced the proportion of unclassified EVS cases (from 35.78% to 16.51%). Significant clinical differences were observed among the groups in terms of episode duration, presence of vomiting, migraine and headache, and family history of migraine. Conclusions: The new Bárány criteria provide a more inclusive and clinically meaningful framework for classifying pediatric EVS. They improve diagnostic clarity, reduce the proportion of unclassifiable cases, and support earlier and more tailored management strategies. Full article
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9 pages, 492 KB  
Article
Efficacy of Dupilumab in Patients with Chronic Rhinosinusitis with Nasal Polyps and Eosinophilic Otitis Media: A Six-Month Observational Study
by Cosimo Galletti, Federica Giammona Indaco, Daniele Portelli, Giulia Laterra, Patrizia Zambito, Maria Grazia Ferrisi, Leonard Freni, Francesco Ciodaro, Francesco Freni, Salvatore Maira and Bruno Galletti
Medicina 2025, 61(8), 1471; https://doi.org/10.3390/medicina61081471 - 15 Aug 2025
Viewed by 576
Abstract
Background and Objectives: Chronic rhinosinusitis with nasal polyps (CRSwNP) and eosinophilic otitis media (EOM) are frequently co-existing eosinophilic disorders related to type 2 inflammation, which significantly impair the quality of life of patients. Dupilumab, a monoclonal antibody targeting the IL-4 receptor alpha and [...] Read more.
Background and Objectives: Chronic rhinosinusitis with nasal polyps (CRSwNP) and eosinophilic otitis media (EOM) are frequently co-existing eosinophilic disorders related to type 2 inflammation, which significantly impair the quality of life of patients. Dupilumab, a monoclonal antibody targeting the IL-4 receptor alpha and anti-IL-13, has demonstrated a promising profile of efficacy and safety in the treatment of CRSwNP; however, evidence on its role in concomitant EOM and CRSwNP remains limited in the literature. This study aims to evaluate the clinical efficacy of dupilumab in patients with concomitant CRSwNP and EOM over a six-month observational period. Materials and Methods: A retrospective observational cohort study was conducted on twenty-two patients (aged 18–75 years) over six months with severe uncontrolled CRSwNP and confirmed refractory EOM who were treated with dupilumab (300 mg every two weeks). Demographic data are collected, and outcome measures included Nasal Polyp Score (NPS), Sino-Nasal Outcome Test (SNOT-22), Visual Analog Scale for nasal congestion (VAS), tympanogram classification, and Chronic Otitis Media Outcome Test (COMOT-15), evaluated at baseline and 6 months. Results: Over the six-month treatment period, patients with coexisting CRSwNP and eosinophilic otitis media experienced significant improvements across the multiple validated clinical and patient-reported outcome measures. The Nasal Polyp Score (NPS) significantly decreased from a median of 5.7 (IQR: 1.2) at baseline to 1.5 (IQR: 1.3) at six months (p < 0.0001). The SNOT-22 showed a substantial decline from a median of 77.6 (IQR: 19.0) to 21.5 (IQR: 13.4), p < 0.0001. Visual Analog Scale (VAS) scores for nasal congestion improved significantly from 8.4 (IQR: 1.1) to 1.7 (IQR: 1.2), p < 0.0001. Tympanogram scores improved from Tympanogram type “B” to Tympanogram type “A” (p = 0.018). COMOT-15 scale decreased from a median of 51.3 (IQR: 8.4) to 19.2 (IQR: 5.0) (p < 0.0001). Peripheral eosinophil counts remained unchanged or increased (baseline 0.80 vs. 0.84 cells/μL at six months, (p = 0.834)). Conclusions: Dupilumab treatment in patients with CRSwNP and EOM led to significant clinical improvements in sinonasal symptoms, middle ear function, and quality of life over six months, with no significant change in peripheral eosinophilia. Full article
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15 pages, 1019 KB  
Case Report
Downbeat Nystagmus: Case Report, Updated Review, Therapeutics, and Neurorehabilitation
by T. Maxwell Parker, Ruben Jauregui, Scott N. Grossman and Steven L. Galetta
Brain Sci. 2025, 15(8), 859; https://doi.org/10.3390/brainsci15080859 - 13 Aug 2025
Viewed by 595
Abstract
Introduction: Downbeat nystagmus (DBN) is an ocular motor disorder characterized by persistent to-and-fro eye movements with a slow phase directed upwards and a corrective fast phase downwards. DBN in the context of myelin oligodendrocyte glycoprotein-associated disorder (MOGAD) represents a rare clinical presentation. [...] Read more.
Introduction: Downbeat nystagmus (DBN) is an ocular motor disorder characterized by persistent to-and-fro eye movements with a slow phase directed upwards and a corrective fast phase downwards. DBN in the context of myelin oligodendrocyte glycoprotein-associated disorder (MOGAD) represents a rare clinical presentation. Case Presentation: A 24-year-old male with MOGAD presented with DBN, status epilepticus, and longitudinally extensive transverse myelitis (LETM). Intervention: The clinical course, diagnostic findings, and management approach are described in detail within the full report. Outcomes: The patient at follow-up was able to ambulate independently, and his nystagmus had improved. He continued to demonstrate transient DBN on supine positioning and head-shaking test. Conclusions: This case report contributes to the understanding of DBN as a manifestation of MOGAD. The accompanying literature review examines the neuroanatomy, pathophysiology, and emerging therapeutic approaches for DBN, providing context for this unusual presentation. Full article
(This article belongs to the Special Issue At the Frontiers of Neurorehabilitation: 3rd Edition)
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10 pages, 1129 KB  
Article
Optimal Sound Presentation Level for Sound Localization Testing in Unilateral Conductive Hearing Loss
by Miki Takahara, Takanori Nishiyama, Yu Fumiiri, Tsubasa Kitama, Makoto Hosoya, Marie N. Shimanuki, Masafumi Ueno, Takeshi Wakabayashi, Hiroyuki Ozawa and Naoki Oishi
Audiol. Res. 2025, 15(4), 95; https://doi.org/10.3390/audiolres15040095 - 2 Aug 2025
Viewed by 271
Abstract
Background/Objectives: This study aimed to investigate the optimal sound presentation level for sound localization testing to assess the effect of hearing interventions in individuals with unilateral conductive hearing loss (UCHL). Methods: Nine participants with normal hearing were tested, and simulated two-stage [...] Read more.
Background/Objectives: This study aimed to investigate the optimal sound presentation level for sound localization testing to assess the effect of hearing interventions in individuals with unilateral conductive hearing loss (UCHL). Methods: Nine participants with normal hearing were tested, and simulated two-stage UCHL was created using earmuffs and earplugs. We created two types of masking conditions: (1) only an earplug inserted, and (2) an earplug inserted with an earmuff worn. A sound localization test was performed for each condition. The sound presentation levels were 40, 45, 50, 55, 60, 65, and 70 dB SPL, and the results were evaluated using root mean square and d-values. Results: Both values showed little difference in masking Condition 2, regardless of the sound presentation level, whereas in masking Condition 1, the values were at their minimum at 55 dB SPL. In addition, comparing the differences between masking Conditions 1 and 2 for each sound presentation level, the greatest difference was observed at 55 dB SPL for both values. Conclusions: The optimal sound presentation level for sound localization testing to assess hearing intervention effects in UCHL was 55 dB. This result may be attributed to the effect of input from the non-masked ear, accounting for interaural attenuation; the effect was considered minimal at 55 dB SPL. Full article
(This article belongs to the Section Hearing)
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14 pages, 1591 KB  
Systematic Review
Management of Aberrant Internal Carotid Artery Injury Caused During Otologic Procedures: Systematic Review and Multicenter Case Series
by Andreas Spörlein, Susan Arndt, Till F. Jakob, Antje Aschendorff, Theo Demerath, Christian Taschner, Andrzej Balcerowiak, Patrycja Rusin, Ann-Kathrin Rauch and Wojciech Gawęcki
J. Clin. Med. 2025, 14(15), 5285; https://doi.org/10.3390/jcm14155285 - 26 Jul 2025
Viewed by 548
Abstract
Background/Objectives: An aberrant internal carotid artery (aICA) in the middle ear is a rare vascular anomaly with potentially catastrophic consequences if injured during otologic procedures. Given its rarity, standardized treatment recommendations are lacking. This study aims to present four cases of aICA bleeding, [...] Read more.
Background/Objectives: An aberrant internal carotid artery (aICA) in the middle ear is a rare vascular anomaly with potentially catastrophic consequences if injured during otologic procedures. Given its rarity, standardized treatment recommendations are lacking. This study aims to present four cases of aICA bleeding, systematically review the literature, and evaluate the outcomes of conservative and interventional management. Methods: A retrospective review of four patients treated for intraoperative aICA hemorrhage at two tertiary referral centers was performed. A systematic review was conducted following PRISMA guidelines. Neurologic and otologic outcomes, hemostasis, and complications were analyzed. Results: Two patients were treated conservatively with external auditory canal packing, while two required endovascular coil embolization due to pseudoaneurysm formation or persistent bleeding. One patient suffered a stroke due to traumatic ICA occlusion. The systematic review identified 20 additional cases. Conservative treatment alone sufficed in 37.5% of cases, whereas 62.5% required vessel occlusion via coiling, balloon occlusion, or stenting. Neurologic complications occurred in 25% of patients, while otologic outcomes varied widely and were inconsistently reported. Conclusions: Initial external auditory canal packing and a CT angiogram should be recommended for all patients. Initial conservative management may be appropriate for cases with early hemostasis if close monitoring is ensured. Endovascular treatment is often necessary, particularly in cases of pseudoaneurysm or rebleeding. Full article
(This article belongs to the Section Otolaryngology)
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27 pages, 4853 KB  
Review
Robotic Systems for Cochlear Implant Surgeries: A Review of Robotic Design and Clinical Outcomes
by Oneeba Ahmed, Mingfeng Wang, Bin Zhang, Richard Irving, Philip Begg and Xinli Du
Electronics 2025, 14(13), 2685; https://doi.org/10.3390/electronics14132685 - 2 Jul 2025
Viewed by 1068
Abstract
Sensorineural hearing loss occurs when cochlear hair cells fail to convert mechanical sound waves into electrical signals transmitted via the auditory nerve. Cochlear implants (CIs) restore hearing by directly stimulating the auditory nerve with electrical impulses, often while preserving residual hearing. Over the [...] Read more.
Sensorineural hearing loss occurs when cochlear hair cells fail to convert mechanical sound waves into electrical signals transmitted via the auditory nerve. Cochlear implants (CIs) restore hearing by directly stimulating the auditory nerve with electrical impulses, often while preserving residual hearing. Over the past two decades, robotic-assisted techniques in otologic surgery have gained prominence for improving precision and safety. Robotic systems support critical procedures such as mastoidectomy, cochleostomy drilling, and electrode array (EA) insertion. These technologies aim to minimize trauma and enhance hearing preservation. Despite the outpatient nature of most CI surgeries, surgeons still face challenges, including anatomical complexity, imaging demands, and rising costs. Robotic systems help address these issues by streamlining workflows, reducing variability, and improving electrode placement accuracy. This review evaluates robotic systems developed for cochlear implantation, focusing on their design, surgical integration, and clinical outcomes. This review concludes that robotic systems offer low insertion speed, which leads to reduced insertion forces and lower intracochlear pressure. However, their impact on trauma, long-term hearing preservation, and speech outcome remains uncertain. Further research is needed to assess clinical durability, cost-effectiveness, and patient-reported outcomes. Full article
(This article belongs to the Special Issue Emerging Biomedical Electronics)
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20 pages, 641 KB  
Article
Vestibular Versus Cochlear Stimulation on the Relief of Phantom Pain After Traumatic Finger Amputation
by José Joaquín Díaz-López, José Adán Miguel-Puga, María Isabel Jaime-Esquivias, Maricela Peña-Chávez and Kathrine Jáuregui-Renaud
Biomedicines 2025, 13(7), 1601; https://doi.org/10.3390/biomedicines13071601 - 30 Jun 2025
Viewed by 458
Abstract
Objective: The aim of this study was to assess the effects of vestibular stimulation (semicircular canals/utricles) compared to cochlear stimulation on phantom pain and depersonalization/derealization symptoms after ≥3 months since traumatic amputation of hand-finger(s). Methods: A total of 125 adults (38.2 ± [...] Read more.
Objective: The aim of this study was to assess the effects of vestibular stimulation (semicircular canals/utricles) compared to cochlear stimulation on phantom pain and depersonalization/derealization symptoms after ≥3 months since traumatic amputation of hand-finger(s). Methods: A total of 125 adults (38.2 ± 8.1 years old) with phantom pain after amputation of one to four fingers agreed to participate. None of them wore prosthetic devices or had history of otology/audiology/vestibular/neurology/rheumatology/orthopedic/psychiatry disorders or psychopharmacological treatment. After a preliminary assessment, in a random order, they were exposed to caloric stimulation (right/left 44 °C/30 °C), centrifuge (right/left), and transient evoked otoacoustic emissions (TOAEs, right/left) with a follow-up of three days in between. Immediately before and after each stimulus, they reported on their pain characteristics and depersonalization/derealization symptoms. Results: After vestibular stimulation, a decrease in pain intensity was reported by at least one-third of the participants, which persisted for at least one day in the majority of them. Less than one-sixth of the participants reported pain decrease after cochlear stimulation. No influence was observed based on the side of the stimulation or the temperature, but the stimuli sequence had an effect. The centrifuge and TOAE effects were related to anxiety/depression symptoms and mainly observed when they were the first stimulus used. After caloric stimulation, pain decrease was independent from the sequence of the stimuli, and it was related to reports of feeling estrangement from the body. Conclusions: Mild caloric vestibular stimulation, whether applied to the right or left side and using warm or cold temperature, can modulate phantom pain after amputation of hand-finger(s) in patients with altered bodily sensations. However, individual cofactors may influence one’s susceptibility to experiencing this effect. Full article
(This article belongs to the Section Molecular and Translational Medicine)
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14 pages, 255 KB  
Article
Masticatory Muscle Pain and Associated Complaints—An Analysis of the Frequency and Coexistence of Symptoms Before and During the COVID-19 Pandemic
by Zofia Maciejewska-Szaniec, Barbara Maciejewska, Małgorzata Gałczyńska-Rusin, Weronika Jakubowska, Natalie Górna, Izabela Maćkowiak, Tomasz Gedrange, Marta Kaczmarek-Ryś and Agata Czajka-Jakubowska
J. Clin. Med. 2025, 14(13), 4473; https://doi.org/10.3390/jcm14134473 - 24 Jun 2025
Viewed by 748
Abstract
Background/Objectives: Chronic stress has an undeniable effect in generating emotional disorders and physiological changes. It results in excessive muscle tension throughout the body, also in the masticatory system. A situation of chronic stress was the COVID-19 pandemic. The aim of this paper [...] Read more.
Background/Objectives: Chronic stress has an undeniable effect in generating emotional disorders and physiological changes. It results in excessive muscle tension throughout the body, also in the masticatory system. A situation of chronic stress was the COVID-19 pandemic. The aim of this paper was to assess the prevalence of specific masticatory pain symptoms, their severity, and the co-occurrence of associated symptoms (otological symptoms and headaches) in patients diagnosed before and during the COVID-19 pandemic. Methods: A total of 202 patients were divided into two groups: Group A (mean age of 36.46; F = 64; and M = 37) and B (mean age of 26.04; F = 70; and M = 31) included patients who presented for the study before and after the COVID-19 pandemic, respectively. The Oral Behaviours Checklist (OBC) questionnaire was used: patients with result ≥2 scores in the OBC were evaluated by DC/TMD. To evaluate the intensity of pain in masticatory structures, the elements of the RDC-TMD questionnaire were used. Otologic symptoms and headaches were assessed as coexisted complaints. Results: A significant increase in pain occurrence was observed in Group B mainly for masseter muscles (p < 0.0001), temporalis (p = 0.0044), and medial pterygoid muscles (p = 0.0153). A significantly more frequent reporting of pain/tenderness was observed among men in most of the evaluated muscles. For the lateral pterygoid muscles, changes in palpation pain did not reach statistical significance. There was a statistically significant difference in the intensity of pain in the temporomandibular joint area between both the entire groups A and B (p = 0.000152), as well as between women in Group A and B (p = 0.006453) and men in the study groups (p = 0.007990). An increase in the incidence of headaches was observed among men in Group B (Group A with 40.6% vs. Group B with 67.3%). The most commonly reported otological symptom in both groups was ear pain and/or discomfort in the preauricular region, with the frequency of otological symptoms being higher in Group B. Conclusions: (1) The COVID-19 pandemic affected the incidence and severity of masticatory muscle pain and associated complaints. (2) A decrease in the age of patients reporting complaints of masticatory mm pain was observed during the COVID-19 pandemic. (3) An increase in the frequency of headaches was observed in the male group during the pan-demic, while in women there was an increase in palpation tenderness of masticatory muscles. Full article
(This article belongs to the Section Dentistry, Oral Surgery and Oral Medicine)
29 pages, 4916 KB  
Review
Pulsatile Tinnitus: A Comprehensive Clinical Approach to Diagnosis and Management
by Sofía Pacheco-López, Jose Pablo Martínez-Barbero, Heriberto Busquier-Hernández, Juan García-Valdecasas-Bernal and Juan Manuel Espinosa-Sánchez
J. Clin. Med. 2025, 14(13), 4428; https://doi.org/10.3390/jcm14134428 - 22 Jun 2025
Viewed by 2525
Abstract
Pulsatile tinnitus (PT) is a subtype of tinnitus characterized by a perception of heartbeat-synchronous sound. It represents approximately 5–10% of all tinnitus cases and may have either a vascular or non-vascular etiology. Accurate diagnosis is crucial due to the potentially serious implications this [...] Read more.
Pulsatile tinnitus (PT) is a subtype of tinnitus characterized by a perception of heartbeat-synchronous sound. It represents approximately 5–10% of all tinnitus cases and may have either a vascular or non-vascular etiology. Accurate diagnosis is crucial due to the potentially serious implications this condition can entail. Assessment through anamnesis and physical examination may often suggest a diagnosis of PT, but it is rarely definitive. Therefore, a comprehensive and specific imaging diagnostic protocol is essential when evaluating PT. A lack of consensus has been identified regarding the use of a standardized protocol for both pulsatile and non-pulsatile tinnitus, whether unilateral or bilateral. Consequently, neuroradiologists, otologists, and otoneurologists from a tertiary hospital have developed a new imaging diagnostic protocol for PT. The aim of this article is to present an updated approach to the diagnostic and therapeutic management of PT, aiming to establish a protocol that serves as a guide for clinicians assessing this symptom. In patients with bilateral PT, systemic conditions leading to increased cardiac output should generally be ruled out; in unilateral cases, focused imaging studies should be performed to exclude organic etiologies at the cervical and cranial levels. Full article
(This article belongs to the Section Otolaryngology)
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14 pages, 3509 KB  
Article
Enhancing the Outcomes of Temporalis Fascia Tympanoplasty Using Autologous Platelet-Rich Plasma and Gel: A Randomized Controlled Trial
by Nejc Steiner, Domen Vozel, Nina Bozanic Urbancic, Kaja Troha, Andraz Lazar, Veronika Kralj-Iglic and Saba Battelino
J. Pers. Med. 2025, 15(6), 233; https://doi.org/10.3390/jpm15060233 - 4 Jun 2025
Viewed by 820
Abstract
Objectives: This study aimed to investigate the impact of platelet-rich plasma (PRP) and platelet-rich gel (PRG) on tympanic membrane closure rates, hearing improvement, and quality of life following tympanoplasty. Methods: Seventy-two patients with chronic tympanic membrane perforations were enrolled in a double-blinded, randomized [...] Read more.
Objectives: This study aimed to investigate the impact of platelet-rich plasma (PRP) and platelet-rich gel (PRG) on tympanic membrane closure rates, hearing improvement, and quality of life following tympanoplasty. Methods: Seventy-two patients with chronic tympanic membrane perforations were enrolled in a double-blinded, randomized controlled trial at a single tertiary referral center. All patients underwent tympanoplasty using a temporalis fascia graft and were randomly assigned to one of two groups: one group received standard tympanoplasty alone, while the other received intraoperative application of autologous PRP and PRG, in addition to the standard procedure. Results: The PRP group demonstrated a significantly higher rate of complete tympanic membrane closure compared to the control group (32/36; 88.9% vs. 24/36; 66.7%; p < 0.05). Bone conduction hearing remained unchanged in both groups, while air conduction hearing improved significantly from pre- to post-treatment in each group. However, the difference in air conduction improvement between the PRP group and the control group was not statistically significant (PRP group: Mdn = −8.25; control group: Mdn = −12.20; U = 618; z = −0.54; p = 0.30). Quality of life improved in both the PRP and control groups; however, the difference between the groups was not statistically significant (PRP group: 10.44 ± 10.46; control group: 10.47 ± 8.22; 95% CI [−4.45; 4.40]; t(66) = −0.01; p = 0.16). Conclusions: Our findings suggest that intraoperative application of autologous PRP and PRG may improve tympanoplasty outcomes, particularly in cases with lower expected success rates or when performing minimally invasive transcanal procedures under local anesthesia. However, variability in PRP preparation, application methods, and graft materials across studies limits direct comparisons. Standardized protocols and further controlled studies are necessary to clarify PRP’s clinical value in tympanoplasty. Full article
(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: Novel Prognostic Markers)
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12 pages, 288 KB  
Review
Recent Advances in Cochlear Implantation
by Eric C. Shawkey, J. Dixon Johns, Armine Kocharyan, Breanna Corle, Emma Woolf, Abbie Parks and Selena E. Briggs
J. Otorhinolaryngol. Hear. Balance Med. 2025, 6(1), 9; https://doi.org/10.3390/ohbm6010009 - 31 May 2025
Viewed by 2539
Abstract
Since the inception of cochlear implantation, the field of technological advancements associated with cochlear implantation has continued to evolve, providing patients with sensorineural hearing loss access with greater sound appreciation capabilities. These advances include evolving cochlear implantation criteria, including increased residual hearing and [...] Read more.
Since the inception of cochlear implantation, the field of technological advancements associated with cochlear implantation has continued to evolve, providing patients with sensorineural hearing loss access with greater sound appreciation capabilities. These advances include evolving cochlear implantation criteria, including increased residual hearing and single-sided deafness; changes in electrode design; options for hearing preservation; and advancements in connectivity, to name a few. This article reviews the various aspects of the recent advancements in relation to cochlear implantation. Full article
(This article belongs to the Section Otology and Neurotology)
9 pages, 1523 KB  
Brief Report
Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière’s Disease
by Giselle Bianco-Bortoletto, Geovana Almeida-Carneiro, Helena Fabbri-Scallet, Alberto M. Parra-Perez, Karen de Carvalho Lopes, Tatiana de Almeida Lima Sá Vieira, Fernando Freitas Ganança, Juan Carlos Amor-Dorado, Andres Soto-Varela, Jose A. Lopez-Escamez and Edi Lucia Sartorato
Genes 2025, 16(6), 654; https://doi.org/10.3390/genes16060654 - 28 May 2025
Viewed by 755
Abstract
Ménière’s Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies by region and ethnicity, with scarce epidemiological data in the Brazilian population. Although most MD [...] Read more.
Ménière’s Disease (MD) is a chronic inner ear disorder defined by recurring episodes of vertigo, fluctuating sensorineural hearing loss, tinnitus, and/or fullness in the ear. Its prevalence varies by region and ethnicity, with scarce epidemiological data in the Brazilian population. Although most MD cases are sporadic, familial MD (FMD) is observed in 5% to 20% of European cases. Through exome sequencing, we have found a rare missense variant in the OTOG gene in a Brazilian individual with MD with probable European ancestry (chr11:17599671C>T), which was previously reported in a Spanish cohort. Two additional rare missense heterozygous OTOG variants were found in the same proband. Splice Site analysis showed that chr11:17599671C>T may lead to substantial changes generating exonic cis regulatory elements, and protein modelling revealed structural changes in the presence of chr11:17599671C>T, chr11:17576581G>C, and chr11:17594108C>T, predicted to highly destabilize the protein structure. The manuscript aims to replicate genes previously reported in a Spanish cohort, and the main finding is that a Brazilian patient with MD also has variants previously reported in familial MD, supporting OTOG as the most frequently mutated gene in MD. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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16 pages, 1222 KB  
Article
The Impact of Hypertension and Related Risk Factors on the Onset and Resolution Rates of Benign Paroxysmal Positional Vertigo Recurrence: A 6-Year Retrospective Study
by Alessandro Micarelli, Ivan Granito, Riccardo Xavier Micarelli and Marco Alessandrini
Neurol. Int. 2025, 17(6), 82; https://doi.org/10.3390/neurolint17060082 - 25 May 2025
Viewed by 1277
Abstract
Background/Objectives: Due to conflicting results about hypertension and the involvement of associated risk factors in the presentation of idiopathic benign paroxysmal positional vertigo recurrence (R-BPPV), this study aimed to explore possible associations between the resolution rate (RR) and recurrence onset (RO) of R-BPPV, [...] Read more.
Background/Objectives: Due to conflicting results about hypertension and the involvement of associated risk factors in the presentation of idiopathic benign paroxysmal positional vertigo recurrence (R-BPPV), this study aimed to explore possible associations between the resolution rate (RR) and recurrence onset (RO) of R-BPPV, as well as hypertension classification and stages and demographic characteristics. Methods: A total of 1201 medical records from patients collected over a 6-year span who first presented with R-BPPV were retrospectively evaluated regarding blood pressure (BP) presentation and associated risk factors. R-BPPV included patients treated with necessary canalith repositioning procedures (CRPs) and followed up with for 12 months. The RO and RR were evaluated when comparing patients sub-grouped by current classification and staging. The association between the RO and RR and many prognostic factors, including the presence of cardio- and neuro-vascular risks, was examined via multiple regression analysis. Results: Among the 857 included patients with R-BPPV, 211 presented with an optimal/normal BP, 210 were found to have a high–normal BP, 222 were classified with Grade 1 hypertension, and 214 were found to have Grade 2 hypertension. Significant (p < 0.05) progressive earlier presentations and increases in needed CRPs were found with the respective increase in BP subgroups. For the RO, the correlation was statistically significant for age and gender, while for the RR, the correlation was statistically significant for age and hypertension stage. Conclusions: This study demonstrates for the first time that clinical consequences of R-BPPV are strongly associated with cardio-, neuro-vascular, and socio-demographic risk factors, which are commonly involved in R-BPPV occurrence. Full article
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10 pages, 601 KB  
Article
Correlation Between Idiopathic Immune-Mediated Uveitis and Audiovestibular Involvement: A Cross-Sectional Study
by Antonio Bustos-Merlo, Juana Dominguez-Perez, María del Carmen Olvera-Porcel, Antonio Espejo-González, Juan Manuel Espinosa-Sanchez and Nuria Navarrete-Navarrete
J. Clin. Med. 2025, 14(10), 3517; https://doi.org/10.3390/jcm14103517 - 17 May 2025
Viewed by 487
Abstract
Background/Objectives: Idiopathic immune-mediated uveitis (IIMU) is an intraocular inflammatory condition affecting the uveal tract and adjacent ocular structures, potentially leading to systemic involvement. Audiovestibular symptoms, such as sensorineural hearing loss (SNHL) and balance disturbances, are often underdiagnosed in these patients. The potential correlation [...] Read more.
Background/Objectives: Idiopathic immune-mediated uveitis (IIMU) is an intraocular inflammatory condition affecting the uveal tract and adjacent ocular structures, potentially leading to systemic involvement. Audiovestibular symptoms, such as sensorineural hearing loss (SNHL) and balance disturbances, are often underdiagnosed in these patients. The potential correlation between IIMU and audiovestibular dysfunction remains insufficiently studied. This study aimed to estimate the prevalence and describe the clinical characteristics of audiovestibular manifestations in patients with IIMU. Methods: We conducted a cross-sectional observational study of 34 patients with a confirmed diagnosis of IIMU at a tertiary academic center. All participants underwent a standardized neurootological assessment, including pure-tone audiometry, video head impulse testing (vHIT), and cervical vestibular-evoked myogenic potentials (cVEMP). Demographic and clinical data were also collected. Results: Audiovestibular dysfunction was identified in 41.18% of patients, with bilateral SNHL (B-SNHL) being the most common finding. Patients with B-SNHL had a significantly later age of uveitis onset (52.3 ± 14.4 vs. 35.9 ± 13.9 years, p = 0.003) and a higher incidence of ocular complications (83.3% vs. 59.1%, p = 0.252). Furthermore, worsening ophthalmologic activity was observed in 25% of patients with B-SNHL, compared to 0% in those without B-SNHL (p = 0.037). Vestibular dysfunction was also associated with delayed onset of uveitis (51.0 ± 17.4 vs. 36.0 ± 12.2 years, p = 0.006) and a non-significantly higher complication rate (76.9% vs. 61.9%, p = 0.465). Conclusions: Audiovestibular dysfunction is a frequent finding in patients with IIMU and is associated with delayed uveitis onset and greater ocular morbidity. These results support the inclusion of systematic audiovestibular screening in clinical evaluations of IIMU patients and suggest that earlier detection may inform prognosis and guide multidisciplinary management strategies. Full article
(This article belongs to the Section Otolaryngology)
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Article
Vestibulo-Ocular Reflex Function and Its Impact on Postural Stability and Quality of Life in Cochlear Implant Recipients: A Cross-Sectional Study
by Khalid A. Alahmari and Sarah Alshehri
Life 2025, 15(3), 499; https://doi.org/10.3390/life15030499 - 20 Mar 2025
Cited by 1 | Viewed by 743
Abstract
Background/Objectives: Vestibulo-ocular reflex (VOR) function, measured by the video head impulse test (vHIT) gains, plays a crucial role in postural stability and quality of life. Cochlear implant recipients often experience vestibular dysfunction, but its relationship with balance and patient-reported outcomes remains underexplored. This [...] Read more.
Background/Objectives: Vestibulo-ocular reflex (VOR) function, measured by the video head impulse test (vHIT) gains, plays a crucial role in postural stability and quality of life. Cochlear implant recipients often experience vestibular dysfunction, but its relationship with balance and patient-reported outcomes remains underexplored. This study aimed to (1) evaluate the relationship between vHIT gains and postural stability in cochlear implant recipients; (2) assess the impact of vHIT gains on quality-of-life metrics; and (3) identify key predictors of postural stability, including vHIT gains and demographic/clinical characteristics. Methods: This cross-sectional study was conducted between August 2023 and February 2024 and included 46 participants that comprised cochlear implant recipients and age-matched normal hearers who underwent the vHIT for lateral, anterior, and posterior semicircular canal function. Postural stability was assessed using dynamic posturography, and quality of life was measured using the Short Form-36 (SF-36). Multiple linear regression and correlation analyses were performed. Results: The vHIT gains demonstrated significant positive correlations with postural stability, with the lateral canal showing the strongest association (r = 0.742, p = 0.001), followed by the posterior (r = 0.701, p = 0.003) and anterior canals (r = 0.684, p = 0.005). A multiple regression analysis identified the lateral canal as the most significant predictor of postural stability (β = 0.512, p = 0.001, adjusted R2 = 0.47). Quality-of-life metrics were inversely correlated with the vHIT gains, particularly in the posterior canal (r = −0.712, p = 0.002), which explained 43–51% of the variance. Conclusions: This study highlighted the lateral semicircular canal as the primary determinant of postural stability in cochlear implant recipients, underscoring the importance of vestibular assessments in optimizing balance and functional outcomes. Full article
(This article belongs to the Special Issue New Trends in Otorhinolaryngology)
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