Sleep disorders have emerged as a significant public health issue, adversely affecting quality of life and precipitating severe complications. The association between obstructive sleep apnea syndrome (OSAS) and otolaryngological manifestations appears to be underrecognized. This study posits that manifestations in the ear, nose and throat (ENT) among patients with OSAS and users of continuous positive airway pressure (CPAP) therapy are relatively common. Utilizing the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement, this systematic review, registered at PROSPERO (No. CRD42023452473), involved a comprehensive search of the MEDLINE databases. We included studies published in English from 1979 to March 2021 that explored the linkages between OSAS, CPAP and otolaryngological manifestations. A total of 29 articles were reviewed, with findings indicating 12 studies on ear dysfunctions, 11 on nose dysfunctions and 6 on pharynx dysfunctions. Reported symptoms included hearing dysfunction, vestibular function disorders, cerebrospinal fluid leak, Eustachian tube (ET) dysfunction, rhinosinusitis, olfaction and taste disorders, dysphagia, dry mouth, and gastroesophageal reflux. The etiology of these ailments varies, yet an understanding of these symptoms can improve the diagnosis to confirm or rule out OSAS. Early identification of ENT symptoms related to OSAS may facilitate prompt diagnosis and mitigate serious complications.
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http://dx.doi.org/10.17219/acem/195243 | DOI Listing |
Orphanet J Rare Dis
January 2025
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.
View Article and Find Full Text PDFCureus
November 2024
Otolaryngology - Head and Neck Surgery, Freeman Health System, Joplin, USA.
Klippel-Feil syndrome (KFS) is a rare congenital condition characterized by the fusion of cervical vertebrae. It classically presents with a triad of symptoms: limited cervical range of motion, a low posterior hairline, and a short neck. Common otolaryngological manifestations include hearing loss, dysphagia, cleft palate, jaw disorders, thyroid abnormalities, and ear malformations, highlighting the importance of KFS awareness in the field of otolaryngology.
View Article and Find Full Text PDFEar Nose Throat J
December 2024
Department of Otorhinolaryngology, Al Mouwasat University Hospital, Damascus University, Damascus, Syria.
GAPO syndrome is an exceptionally-rare autosomal recessive disorder characterized by growth retardation, alopecia, pseudoanodontia, and optic abnormalities, with fewer than 60 cases reported globally. We present the first documented case in Syria, highlighting novel otolaryngological and radiological findings that expand the clinical spectrum of this syndrome. A 27-year-old male presented with chronic right-sided otalgia, unilateral conductive hearing loss, and persistent sinonasal symptoms.
View Article and Find Full Text PDFOtolaryngol Head Neck Surg
December 2024
Department of Otolaryngology, Marqués de Valdecilla University Hospital, Santander, Spain.
Eur Ann Otorhinolaryngol Head Neck Dis
December 2024
Servicio de Otorrinolaringología, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Departamento de Cirugia, Facultat de Medicina i Odontologia, Universitat de València, Valencia, Spain; Instituto de Investigación Sanitaria (IIS) La Fe, Valencia, Spain; BMCG, Instituto de Investigación Sanitaria La Fe, CIBERES, Valencia, Spain.
Introduction: To document through a case report the ENT manifestations of the STING-associated vasculopathy with onset in infancy (SAVI) syndrome, remarking their value to achieve the diagnosis.
Case Summary: A man in his forties presented with exercise-related dyspnoea and cold-exacerbated painful lesions over the nasal tip, cheeks, ears, and feet since his early childhood. The ENT manifestations included cartilaginous necrosis (both auricles and nasal tip) and a 1-cm anterior septal perforation.
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