Results 41 to 50 of about 47,990 (266)

Assessment of Hearing Defect in Oral Submucous Fibrosis: A Cross-Sectional Study

Journal of Orofacial Sciences
Introduction: This study was designed to assess the hearing defect in oral submucous fibrosis and compare the hearing defect in different stages of oral submucous fibrosis (OSMF) and also the hearing defect in the control group.
Garikapati Anoop, Nunsavathu Purnachandra Rao Naik, Yalamanchili Samata, Saranu Sethu Manjusha, Chennupati Tejaswi   +4 more
doaj   +1 more source

Functionalized Biomimetic Scaffolds for Human‐Derived Auditory Neural Circuit Construction

Advanced Science, EarlyView.
In Vitro Auditory Circuit Model. ABSTRACT Damage to auditory circuits results in sensorineural hearing loss. However, the scarcity of human inner ear tissue significantly hinders the development of therapies to preserve auditory function, creating a critical need for reliable in vitro models.
Pan Feng, Qian Zhu, Yusong Wang, Hao Rong, Xu Zhang, Fuchun Wang, Tianqi Yu, Wenxuan Wang, Jing Li, Lei Tian, Menghui Liao, Renjie Chai, Yangnan Hu   +12 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Pseudoexfoliation and sensorineural hearing loss [PDF]

Eye, 2002
There is increasing evidence that pseudoexfoliation (PXF) not only affects ocular anterior segment structures, but may also be a systemic disease. This study was undertaken to assess the relationship between PXF and sensorineural hearing loss.Patients with PXF were identified from hospital records and underwent complete ocular examination.
M, Cahill, A, Early, S, Stack, A W, Blayney, P, Eustace   +4 more
openaire   +2 more sources

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Sensorineural hearing loss in neurobrucellosis

Neurosciences, 2008
Neurobrucellosis (NB) is a rare clinical presentation of brucellosis. This form is hard to diagnose because of a lack of definite diagnostic criteria, and its treatment is also hard. The clinical spectrum may cover a span between non-specific neurological symptoms to a severe meningoencephalitis.
Gonul, Sengoz, Kadriye K, Yasar, Filiz, Yildirim, Ozcan, Nazlican   +3 more
openaire   +2 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Perda auditiva neurossensorial súbita idiopática: evolução na presença de hipertensão arterial sistêmica, diabetes melito e dislipidemias Idiopathic sudden sensorineural hearing loss: evolution in the presence of hypertension, diabetes mellitus and dyslipidemias

Brazilian Journal of Otorhinolaryngology, 2010
Estudo retrospectivo com o objetivo de avaliar a interferência das doenças associadas na evolução e prognóstico da perda auditiva neurossensorial súbita idiopática. MATERIAL E MÉTODO: Estudo caso controle.
Jayson Nagaoka, Marcelo Ferreira dos Anjos, Thales Takeo Takata, Renan Moukbel Chaim, Flavia Barros, Norma de Oliveira Penido   +5 more
doaj   +1 more source

Antioxidants and Vasodilators for the Treatment of Noise-Induced Hearing Loss: Are They Really Effective?

Frontiers in Cellular Neuroscience, 2020
We live in a world continuously immersed in noise, an environmental, recreational, and occupational factor present in almost every daily human activity. Exposure to high-level noise could affect the auditory function of individuals at any age, resulting ...
Juan Carlos Alvarado, Verónica Fuentes-Santamaría, José M. Juiz, José M. Juiz   +3 more
doaj   +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, EarlyView.
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