Results 21 to 30 of about 55,425 (230)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Cryopreserved Human Otic Neuronal Spheroids Self‐assemble for Functional Connectivity Analysis and Long‐term Ototoxicity Evaluation

Advanced Science, EarlyView.
This study establishes a robust and reproducible protocol for generating human otic neuronal spheroids (hONS) from cryopreserved hPSC‐derived pre‐placodal ectoderm cells. These hONS further differentiate into functional SGN‐like neurons, which extend neurite projections toward both murine hair cells and human cortical organoids, thereby forming ...
Gaoying Sun, Yukai Wang, Man Wang, Xinyue Wang, Mingming Tang, Da Li, Jianhuan Qi, Xue Wang, Shujuan Sun, Lei Chen, Weibin An, Ligang Kong, Anqi Suo, Haibo Wang, Wenwen Liu, Lei Xu   +15 more
wiley   +1 more source

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

Cidea Targeting Protects Cochlear Hair Cells and Hearing Function From Drug‐ and Noise‐Induced Damage

Advanced Science, EarlyView.
Acquired sensorineural hearing loss is primarily caused by the damage or loss of cochlear hair cells, induced by factors such as noise exposure and ototoxic drugs. The deficiency of apoptosis‐inducing gene Cidea in Cidea KO mice or by delivering CRISPR/SlugCas9‐HF via AAV to edit Cidea effectively alleviated hair cell damage and hearing loss caused by ...
Shasha Zhang, Ruiying Qiang, Yuan Zhang, Jinxian Wan, Chen Tao, Ying Dong, Xujun Tang, Li Xu, Hairong Xiao, Yanqin Lin, Wei Tong, Ying Ma, Yongming Wang, Peng Li, Renjie Chai   +14 more
wiley   +1 more source

Effectiveness of Pre‐Transplant Dual GLP‐1 Receptor Agonist and SGLT2 Inhibitor Therapy on All‐Cause Mortality in Organ Transplantation Candidates with Obesity and Type 2 Diabetes: a Target‐Trial Emulation

Advanced Science, EarlyView.
This target trial emulation in solid organ transplant candidates with obesity and type 2 diabetes evaluates whether pre‐transplant dual therapy with GLP‐1 receptor agonists plus SGLT2 inhibitors is associated with post‐transplant mortality and kidney graft outcomes compared with monotherapy or usual care, using multinational electronic health records ...
Yu‐Nan Huang, Min‐Yu Tsou, Pin‐Hung Li, Jo‐Ching Chen, Yen‐Liang Liu, Gideon Meyerowitz‐Katz, Tsung‐Hsun Tsai, Pen‐Hua Su   +7 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

Hearing Loss: From Basic to Clinical Science

Advanced Science, EarlyView.
Abstract Hearing loss (HL) affects over 1.5 billion people globally, with genetic factors accounting for ≈50% of congenital cases. Therefore, HL has become a global health issue, driving extensive research from basic science to clinical applications. This Special Collection includes a total of 31 papers, among which 9 are review papers, 21 are research
Renjie Chai, Hai Huang, Jing Zou
wiley   +1 more source

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

International Archives of Otorhinolaryngology, 2013
Background Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971.
Lauren Medeiros Paniagua, Maria Elza Kazumi Yamaguti Dorfman, Luiz Lavinsky, Pricila Sleifer   +3 more
doaj   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness

Türk Nöroloji Dergisi, 2011
Tuberculous meningitis is the most severe manifestation of extrapulmonary tuberculosis with a high mortality and morbidity rates. It is usually presented with headache, fever, consciousness disturbances and convulsions. Eigth cranial nerve involvement is
Kürşad Çetin Akpınar, Hakan Doğru, Kemal Balcı   +2 more
doaj   +2 more sources