Results 101 to 110 of about 2,109,409 (197)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Production and regulation of inflammatory cytokines in the middle ear [PDF]

Chronic otitis media with effusion in children is characterized as the persistent retention of mucoid effusion in the middle ear. The pathogenesis of this disease in children is considered to be different from that in adult.
氷見, 徹夫, 吉岡, 巖
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Age‐Dependent Patterns of Cisplatin‐Induced Ototoxicity in Head and Neck Cancer: A Longitudinal Audiologic Analysis

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Background Cisplatin (CDDP) is a key chemotherapeutic agent used to treat head and neck cancer. Improved survival rates have increased concerns about CDDP‐induced ototoxicity, as this toxicity significantly impacts survivors' quality of life. However, the dose‐dependent and age‐related patterns of CDDP‐induced ototoxicity remain incompletely ...
C. Suzuki, Y. Kishimoto, M. Yamamoto, N. Yamamoto, M. Kitamura, S. Hiraoka, R. Nakashima, S. Morita, K. Omori   +8 more
wiley   +1 more source

Relationship between Oral Anaerobic Bacteria and Otitis Media with Effusion

International Journal of Medical Sciences, 2012
Objective: In this study hypothesing the translocation of oral bacteria from oropharynx into the middle ear cavity may be involved in the pathogenesis of otitis media with effusion (OME), we aimed to investigate the presence and similarity of ...
Nursen Topcuoglu, Fahriye Keskin, Sevgi Ciftci, Ceki Paltura, Mehmet Kulekci, Duran Ustek, Guven Kulekci
doaj  

Sonotubometry findings in children at high risk from middle ear effusion

, 1999
The functioning of the eustachian tube has an important role to play in the development of middle ear disease. It would be useful if a clinical test could assist in the identification of eustachian tube dysfunction, particularly if this is shown to be an
Benton, C. L., Marchbanks, R. J., Munro, K. J.; id_orcid   +2 more
core   +1 more source

Acute Pancreatitis Presenting With ST‐Segment Elevation and Marked Troponin Elevation: A Diagnostic Dilemma in a Resource‐Limited Setting—A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Acute pancreatitis can present with ST‐segment elevation and marked troponin elevation, mimicking acute coronary syndrome. In resource‐limited settings where coronary angiography, cardiac magnetic resonance imaging, and serial high‐sensitivity troponin testing are unavailable, distinguishing acute myocardial injury associated with pancreatitis
Selamawit Kassahun Aweke, Natnael Mathewos Assale, Anteneh Girma Mengistu, Nathanael Elias Temesgen, Eden Fanta Amajo, Saron Yohannes Tsegaye, Merahi Kefyalew Merahi   +6 more
wiley   +1 more source

Bone Conduction Cervical Vestibular Evoked Myogenic Potentials as an Alternative in Children with Middle Ear Effusion. [PDF]

J Clin Med, 2023
Damien M, Wiener-Vacher SR, Reynard P, Thai-Van H.   +3 more
europepmc   +1 more source

Middle ear pressure regulation:Compliant structures counterbalancing pressure changes [PDF]

, 2018
One of the most frequent otological diseases is otitis media with effusion. This condition consists of inflammatory changes within the middle ear, and accumulation of an under-atmospheric pressure.
Padurariu, Simona
core  

Small Molecule Therapeutic Approaches With a Greater Focus on Hearing Loss: A Review

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aims Hearing loss (HL) is one of the most common sensory impairments worldwide and has substantial effects on quality of life and daily functioning. Although cochlear implants and hearing aids have markedly improved the management of hearing impairment, these devices do not directly address the underlying pathogenic mechanisms ...
Maryam Naghinejad, Farzaneh Motallebi, Elaheh Hasani, Moein Kohkalani, Sepideh Parvizpour, Sima Mansoori Derakhshan   +5 more
wiley   +1 more source