Results 31 to 40 of about 14,756 (255)

Measurement of conductive hearing loss in mice [PDF]

Hearing Research, 2010
In order to discriminate conductive hearing loss from sensorineural impairment, quantitative measurements were used to evaluate the effect of artificial conductive pathology on distortion-product otoacoustic emissions (DPOAEs), auditory brainstem responses (ABRs) and laser-Doppler vibrometry (LDV) in mice.
Zhaobing, Qin, Melissa, Wood, John J, Rosowski   +2 more
openaire   +2 more sources

On Hierarchical Composite Endpoints in Pediatric Cancer Supportive Care: Illustrative Examples From Two Multi‐Center Phase‐III Randomized Clinical Trials

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric supportive care clinical trials often involve multiple clinically important outcomes, complicating trial interpretation. Hierarchical composite endpoints (HCEs) provide a framework to integrate key outcomes according to clinical importance.
Willem H. Collier, Mark Zobeck, Adam J. Esbenshade, Christopher C. Dvorak, Lillian Sung, David Freyer, Sarah Alexander, Etan Orgel, Nicole J. Ullrich, Zach Prudowsky, Brian Fisher, Caitlin W. Elgarten   +11 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Conductive Hearing Loss Aggravates Memory Decline in Alzheimer Model Mice

Frontiers in Neuroscience, 2020
The study of cognitive impairment associated with hearing loss has recently garnered considerable interest. Epidemiological data have demonstrated that hearing loss is a risk factor for cognitive decline as a result of aging.
Jin Su Kim, Jin Su Kim, Hae-June Lee, Seonhwa Lee, Seonhwa Lee, Ho Sun Lee, Ho Sun Lee, Ye Ji Jeong, Yeonghoon Son, Yeonghoon Son, Jung Min Kim, Yong Jin Lee, Min-Hyun Park, Min-Hyun Park   +13 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Conductive hearing loss in children with autism [PDF]

European Journal of Pediatrics, 2013
Infantile autism is a serious comprehensive developmental disorder. The diagnosis of hearing loss or its exclusion, which often suggests suspected autism, is very important for early ENT, psychotherapy, and psychiatric treatment. One hundred children diagnosed with autism aged from 3 to 18 years, with a median age of 5 years, were evaluated.
openaire   +2 more sources

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Vibrant Soundbridge implant in a patient with Fanconi anemia

Acta Oto-Laryngologica Case Reports, 2020
The Vibrant Soundbridge implant with a short process coupler placed at the short process of the incus has been successfully used to treat conductive hearing loss. Coupling of the floating mass transducer of the Vibrant Soundbridge to the short process of
Yara Alanazi, Roa Halawani, Farid Alzhrani   +2 more
doaj   +1 more source