Results 41 to 50 of about 74,421 (224)

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

A Rare Case of Vertebrobasilar Dolichoectasia Presenting with Ipsilateral Facial Paresis and Concomitant Severe Sensorineural Hearing Loss

Philippine Journal of Otolaryngology Head and Neck Surgery, 2014
Objective: To report a case of vertebrobasilar dolichoectasia presenting with ipsilateral facial nerve paresis and concomitant severe sensorineural hearing loss.
Mee Ling Tang, Govindaraju Revadi, Raman Rajagopalan, Sushil Brito-Mutunayagam   +3 more
doaj   +1 more source

Management options in the sudden hearing loss of a diabetic patient [PDF]

, 2019
The aim of our paper is to highlight the main therapeutic principles and the management options in the case of a diabetic patient who has had a sudden hearing loss.
Badiu, Dumitru Cristinel, Burcea-Dragomiroiu, George Traian Alexandru, Gherghiceanu, Florentina, Hainarosie, Mura, Hainarosie, Razvan, Iana, Oana Ruxandra, Ioniță, Irina, Pietrosanu, Catalina, Pop, Corina Silvia, Rusescu, Andreea, Zainea, Viorel, Ștefănescu, Dragos Cristian   +11 more
core   +3 more sources

XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Mechanism of GAS‐mediated protection against noise‐induced hearing loss (NIHL). Noise exposure activates the ATF4/eIF2α axis, downregulating XIAP and promoting DDRGK1 degradation, thereby inhibiting ER‐phagy and leading to hair cell (HC) death. GAS treatment rescues XIAP and DDRGK1 expression, reactivating ER‐phagy to mitigate HC loss, synaptic damage,
Lin Yan, Yuhua Zhang, Jiawei Du, Yongjun Zhu, Wei Cao, Yongjie Wei, Han Wu, Shiyu Qiu, Shiyi Pan, Lian Chen, Pingping Liang, Renjie Chai, Jianming Yang, Qiaojun Fang   +13 more
wiley   +1 more source

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

Advanced Science, EarlyView.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang, Ziwen Gao, Hui Huang, Chanyuan Zhang, Yiquan Tang, Qianhui Qu, Huabin Li, Jing Ke, Zhiji Chen, Menglong Feng, Hu Zhou, Yilai Shu, Wei Yuan   +12 more
wiley   +1 more source

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

Sudden Sensorineural Hearing Loss in a Patient with COVID-19: A Case Report

Journal of Kerman University of Medical Sciences, 2023
Background: Several viral infections may lead to hearing loss. It›s still unknown whether COVID-19 has effects on the auditory system or not. In this regard, to evaluate the possibility of sudden sensorineural hearing loss due to COVID-19, this study ...
Maryam Delphi, Maryam Kardouni
doaj   +1 more source

Otoacoustic emissions in hearing screening in children [PDF]

, 2010
Background/Aim. Prevention of the consequences of hearing loss can be accomplished by early hearing screening of the cochlear function in newborus, but also with continuous hearing screening in the early childhood.
Babac Snežana, Ivanković Zoran, Petrović-Lazić Mirjana, Stojanović-Kamberović Vesna, Tatović Milica   +4 more
core   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss Following Wasp Sting and Successful Treatment With Intratympanic Steroids

Clinical Medicine Insights: Case Reports, 2019
Objective: A sting by a Vespula vulgaris (wasp) should be considered as a cause of sudden sensorineural hearing loss. Although the mechanism of this cause is not well understood, management approach is similar to idiopathic sudden sensorineural hearing ...
Anwuli Anyah, Michael Visconti, James Spoto   +2 more
doaj   +1 more source