Results 121 to 130 of about 3,268,367 (324)

Is it too loud? Ask your brain!

NeuroImage
Purpose: In this study, the objectification of the subjective perception of loudness was investigated using electroencephalography (EEG). In particular, the emergence of objective markers in the domain of the acoustic discomfort threshold was examined ...
Philipp Zelger, Josef Seebacher, Simone Graf, Sonja Rossi   +3 more
doaj  

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

A multimodal approach to automated hierarchical assessment of bulbar involvement in amyotrophic lateral sclerosis

Frontiers in Neurology
IntroductionAs a hallmark feature of amyotrophic lateral sclerosis (ALS), bulbar involvement leads to progressive declines of speech and swallowing functions, significantly impacting social, emotional, and physical health, and quality of life.
Panying Rong, Lindsey Heidrick, Gary L. Pattee   +2 more
doaj   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Cognitive load associated with speaking clearly in reverberant rooms

Scientific Reports
Communication is a fundamental aspect of human interaction, yet many individuals must speak in less-than-ideal acoustic environments daily. Adapting their speech to ensure intelligibility in these varied settings can impose a significant cognitive burden.
Keiko Ishikawa, Silvia Murgia, Hannah Li, Elisabeth Renkert, Pasquale Bottalico   +4 more
doaj   +1 more source

Over the counter hearing aids self-fitting using the Gaussian Process Classification

Frontiers in Audiology and Otology
IntroductionTo provide better access to hearing aids and lower the devices' costs for patients with mild to moderate hearing loss, the Food and Drug Administration (FDA) changed its rules for hearing aid distribution, making them available to consumers ...
Christopher Boven, Joseph Turek, Kathleen Dunckley, Claus-Peter Richter, Claus-Peter Richter, Claus-Peter Richter, Claus-Peter Richter   +6 more
doaj   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

A novel muscle network approach for objective assessment and profiling of bulbar involvement in ALS

Frontiers in Neuroscience
IntroductionAs a hallmark feature of amyotrophic lateral sclerosis (ALS), bulbar involvement significantly impacts psychosocial, emotional, and physical health.
Panying Rong, Lindsey Heidrick, Gary Pattee   +2 more
doaj   +1 more source

Reference equivalent threshold sound pressure levels for the Wireless Automated Hearing Test System. [PDF]

J Acoust Soc Am, 2022
Clavier OH, Norris JA, Hinckley DW, Martin WH, Lee SY, Soli SD, Brungart DS, Schurman JR, Larsen E, Mehraei G, Quigley TM.   +10 more
europepmc   +1 more source

Speech and hearing disorders of myoclonus epilepsy

, 1976
Masaaki Nagafuchi, Hiroshi Saito
openalex   +2 more sources