Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.
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http://dx.doi.org/10.1016/j.otc.2015.07.007 | DOI Listing |
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Sci Rep
January 2025
Department of Otolaryngology - Head and Neck Surgery, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
Loud noise exposure is one of the leading causes of permanent hearing loss. Individuals with noise-induced hearing loss (NIHL) suffer from speech comprehension deficits and experience impairments to cognitive functions such as attention and decision-making. Here, we investigate the specific underlying cognitive processes during auditory perceptual decision-making that are impacted by NIHL.
View Article and Find Full Text PDFTrends Hear
January 2025
Department of Emergency Medicine, Cardinal Tien Hospital, New Taipei City, Taiwan.
This nationwide retrospective cohort study examines the association between adults with hearing loss (HL) and subsequent injury risk. Utilizing data from the Taiwan National Health Insurance Research Database (2000-2017), the study included 19,480 patients with HL and 77,920 matched controls. Over an average follow-up of 9.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Otolaryngology Head and Neck Surgery, King Fahad Specialist Hospital, Dammam, Saudi Arabia. Electronic address:
Introduction: The infratemporal fossa (ITF) is considered an uncommon location for giant cell granuloma (GCG), a rare benign disease that is frequently detected in the maxilla and mandible.
Presentation Of Case: A 47-year-old male presented with right-sided hearing loss, tinnitus, and jaw claudication. Radiological imaging confirmed the presence of a mass in the ITF accompanied by bone erosion.
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