Results 41 to 50 of about 364,295 (257)

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

Benefits of Binaural Integration in Cochlear Implant Patients with Single-Sided Deafness and Residual Hearing in the Implanted Ear

Life, 2021
The purpose of the study is to gauge the benefits of binaural integration effects (redundancy and squelch) due to preserved low-frequency residual hearing in the implanted ear of cochlear implant users with single-sided deafness.
Artur Lorens, Anita Obrycka, Piotr Henryk Skarzynski, Henryk Skarzynski   +3 more
doaj   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +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

How Easily Can AI Chatbots Spread Misinformation in Audiology and Otolaryngology?

OTO Open
Objective Chatbots powered by large language models (LLMs) have recently emerged as prominent sources of information. However, their ability to propagate misinformation as well as information, particularly in specialized fields like audiology and ...
W. Wiktor Jedrzejczak, Agata Szkiełkowska, Danuta Raj‐Koziak, Elżbieta Włodarczyk, Henryk Skarżyński, Krzysztof Kochanek   +5 more
doaj   +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

Assessing pragmatic abilities in children with Autism Spectrum Disorders

Journal of Child Language Acquisition and Development, 2022
The aim of the study was to explore pragmatic skills in children with Autism Spectrum Disorder (ASD). Six children with ASD between ages 3 to 8 years were chosen as the participants.
Mudra Dudwadkar, Bhavani Venkatachalam, Yasha Chheda , Vrushali Shinde , Ankita Kale , Brajesh Priyadarshi   +5 more
doaj  

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

Hearing aid selection, fitting, verification, and validation: audiology practice in India and Australia

The Egyptian Journal of Otolaryngology
Background Verification and validation of hearing aids are linked to several elements of the evidence-based practice (EBP) approach for selecting and fitting hearing aids.
Prajeesh Thomas, Saravanan Palani, Kruthika Shankar   +2 more
doaj   +1 more source