Background: Central lucency of the bony island of the lateral semicircular canal (LSCC) is commonly found in patients with congenital severe-to-profound sensorineural hearing loss (SNHL).
Objective: Exploring the significance of bony island lucency of LSCC in congenital severe-to-profound SNHL patients.
Material And Methods: Retrospective measurements of the inner ear structures were made on axial temporal bone CT scans from 182 (364 ears) congenital severe-to-profound SNHL patients and 50 (100 ears) tympanic membrane perforation (TMP) patients.
Results: The incidence of bony island lucency of LSCC was 46.7% in the congenital severe-to-profound SNHL group and 0% in the TMP group. There was a statistically significant difference in inner ear structures among congenital severe-to-profound SNHL patients with normal inner ear structure and bony island lucency of LSCC, congenital severe-to-profound SNHL patients with normal inner ear structure and no bony island lucency of LSCC, and TMP patients. The importance of the bony island lucency of LSCC was further confirmed through multiple linear regression analysis.
Conclusions And Significance: Bony island lucency may have significance in congenital severe-to-profound SNHL and may be a manifestation of largely overlooked SCC malformation or hypoplasia of the inner ear.
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http://dx.doi.org/10.1080/00016489.2023.2179661 | DOI Listing |
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
J Appl Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Avenue, Daneshjoo Blvd, Evin, Tehran, 1985713834, Iran.
Perrault syndrome (PS) is an extremely rare autosomal recessive condition characterized primarily by bilateral sensorineural hearing loss in both genders and primary or secondary ovarian failure in females. Neurological features such as cerebral ataxia, peripheral neuropathy, epilepsy, and intellectual disability are frequent manifestations of PS. To date, six genes have been reported to cause PS, and nearly 100 families have been identified worldwide with this syndrome.
View Article and Find Full Text PDFOtol Neurotol
January 2025
Eaton-Peabody Laboratories, Massachusetts Eye and Ear (MEE), Department of Otolaryngology, Harvard Medical School, Boston, MA.
Objective: To review the management of meningitis, large lateral skull base defect, and meningoencephalocele following pediatric cochlear implant (CI) surgery.
Study Design: Case report.
Methods: Patient demographics, medical and surgical history, computed tomography (CT).
J Mol Neurosci
October 2024
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.
Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large portion of congenital hereditary HL. Our study was conducted on 13 patients from 13 unrelated families.
View Article and Find Full Text PDFJ Appl Genet
September 2024
Unité de Recherche Sur Les Biomarqueurs Dans La Population Mauritanienne, UN-FST, Nouakchott, Mauritania.
PJVK gene was recently shown to create hypervulnerability to sound in humans and was the first human gene implicated in non-syndromic hearing impairment due to neural defect. Targeted next-generation sequencing of over 150 known deafness genes was performed in the proband. Sanger sequencing was used to validate the PJVK variant and confirm familial segregation of the disease.
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