New variants of ALMS1 gene and familial Alström syndrome case series.

OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. REPORT: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene. CONCLUSION: This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.

Middle Ear Cholesteatoma and Vestibular Schwannoma Resection Followed by Cochlear Implant: Surgical Challenges and Audiological Outcomes.

(1) Background: The occurrence of vestibular schwannoma (VS) associated with cholesteatoma is rare. A hearing impairment is one of the most significant issues in such cases. Moreover, the presence of middle and inner ear pathologies combined may represent a surgical challenge. No studies have described a combined surgical approach for these coexisting conditions (VS and cholesteatoma), nor the hearing rehabilitation outcomes of using cochlear implants for these patients. (2) Case Report: This paper is on a female patient who underwent simultaneous surgical treatments for VS and middle ear cholesteatoma in the right ear followed by a cochlear implant, describing the technique and the audiological results. (3) Conclusions: The surgical approach was successful and enabled the resection of lesions with the auditory nerve and cochlea preservation. Cochlear implantation in the right ear showed positive postoperative results, with an improvement in the results with the CI in silent and noisy environments.

Cochlear Implantation in Children with Auditory Neuropathy: Meta-Analysis.

BACKGROUND: Auditory neuropathy (AN) is a nosological entity of unknown etiology, which is associated with fluctuations in rates of speech discrimination. Its diagnosis is based on presence of otoacoustic emissions and lack of, or abnormal, brainstem auditory evoked potential. With respect to treatment, we have variable results in the literature about development of speech perception and skills, in children with AN and cochlear implant (CI) rehabilitation. OBJECTIVES: Comparatively assessing results recorded for the development of auditory and speech skills in children with auditory neuropathy spectrum disorder (ANSD), who were subjected to cochlear implantation, in comparison to results recorded for children with sensorineural hearing loss associated with other causes was the objective of this study. METHOD: A systematic literature review with meta-analysis was performed, with studies published from 1975 to 2023. RESULTS: Nineteen studies were included in the systematic review, and eight were selected for the meta-analysis, which showed there was no evidence allowing the conclusion that the two groups were different from each other about results in speech performance after 1 year of CI placement. CONCLUSION: Therefore, this study shows that CI provides the comparable benefit to children with ANSD in comparison to children with neurosensory hearing loss associated with other causes in their speech development.

IgG4-Related Disease of Temporal Bone Presenting as Unilateral Mastoiditis and Cerebral Thrombosis in a 22-Year-Old Man.

BACKGROUND Immunoglobulin G4-related disease (IgG4-RD) is a rare autoimmune disease that can affect multiple organs and manifest itself as a mass at any region of the body. Due to its several differential diagnoses, investigation and treatment are still challenging. Therefore, imaging, serology, and histopathology are required to confirm the diagnosis. The involvement of the temporal bone is an uncommon presentation, often mistaken for malignancy, with vague symptoms. Therefore, we present a 22-year-old Brazilian man, diagnosed with IgG4-related disease, manifesting with unilateral mastoiditis, sensorineural hearing loss, cerebral venous sinus thrombosis, and a mass in the left temporal bone. CASE REPORT A 22-year-old Brazilian male patient first presented with coughing and precordialgia. Chest scans showed pleural effusion and diffuse areas of ground-glass opacity. A year later, the patient developed severe headache, along with aural fullness, facial pressure, and otorrhea. Imaging detected cerebral thrombosis with failure in the filling of the transverse and left sigmoid sinuses and pachymeningeal thickening in the right cerebral hemisphere, with contrast enhancement. Pure tone audiometry showed thresholds consistent with severe sensorineural hearing loss in the left ear. The patient underwent mastoidectomy with removal of large amounts of inflammatory tissue that were sent to histopathological analysis with compatible signs of IgG4-RD. Corticosteroids and rituximab completed the treatment. CONCLUSIONS Early recognition and appropriate treatment of IgG4-RD are imperative to avoid complications and serious irreversible organ damage. This report has presented an atypical case of IgG4-RD of the left temporal bone that was diagnosed and managed according to current guidelines.

Cochlear implant in tinnitus management.

PURPOSE OF REVIEW: To evaluate whether cochlear implantation can mitigate tinnitus perception and its discomfort among patients with severe-to-profound hearing loss, in order to provide an answer on a possible treatment for a health condition with high prevalence and impact on quality of life. RECENT FINDINGS: Tinnitus can develop after peripheral hearing loss and is associated with altered auditory processing. It does not only involve auditory structures but also aberrant neural activity and interaction with other regions of the Central Nervous System associated with emotion, attention, anguish, memory and motor activity. SUMMARY: Recent studies investigated the changes in tinnitus perception among patients who underwent cochlear implantation and demonstrated a postoperative decrease. Hence, patients with severe-to-profound sensorineural hearing loss and tinnitus are likely to benefit from cochlear implantation.

Surgical Treatment Outcome for Familial Melkersson-Rosenthal Syndrome.

BACKGROUND Recurrent facial nerve palsy, orofacial edema, and fissured tongue are a triad of manifestations that characterize a rare disorder named Melkersson-Rosenthal syndrome. It is important to consider this syndrome when diagnosing atypical, unilateral, or bilateral facial palsies with characteristics of familial prevalence. There is no established outcome prediction for this disease and the syndrome does not have a specific duration or prospective timeline. Recurrent facial paralysis can require surgery and a multidisciplinary approach with regular follow-up. CASE REPORT We describe a 38-year-old woman presenting with a third episode of facial paralysis and discuss her pedigree chart and the treatment course chosen. After conservative treatment with oral corticosteroids, antiviral therapy, and motor physical therapy with no significant improvements, the patient underwent facial nerve decompression surgery with outstanding results. Eight months after surgery and intense postoperative physical therapy, the patient improved from grade VI to grade II palsy on the House-Brackmann Scale. The patient's older brother also presented a fissured tongue and had a history of 2 episodes of facial paralysis. The patient's son, mother, and sister also presented tongue fissuring but did not have any other clinical signs of the syndrome. CONCLUSIONS Despite being rare, Melkersson-Rosenthal syndrome is associated with a family inheritance and its diagnosis has prognostic implications. Therefore, it is of the utmost importance to have suspicion of this disorder in order to improve quality of care and target the treatment accordingly. Surgical treatment in these cases seems to be an excellent choice to treat current facial paralysis and prevent further episodes.

Is there benefit from the use of cochlear implants and hearing aids in cognition for older adults? A systematic review.

Objectives: The aim of the study was to assess whether hearing aids (HA) and cochlear implants (CI) bring benefits to cognition or mitigate cognitive decline in older adults. Methods: This is a systematic literature review registered on the International Prospective Register of Systematic Reviews (PROSPERO) and based on the criteria recommended by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The Population, Intervention, Comparison, Outcome, and Study type (PICOS) strategy was used to define eligibility. Studies that met the criteria were included in the qualitative synthesis. We assessed the risk of bias through the Joanna Briggs Institute Critical Appraisal Checklists. Results: A total of 3,239 articles, found in eight databases, addressed the relationship between HA, CI, and cognition. We selected 30 experimental articles reporting measures of cognitive outcomes for older adults to include in the qualitative analysis. Of those, 23 studies reported a significant improvement in outcome and seven reported no significant change. Conclusions: This systematic review indicates that CI and HA can bring benefits to cognition in older adults. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021273690.