Results 111 to 120 of about 3,268,367 (324)

Effects of Varying Reverberation on Music Perception for Young Normal-Hearing and Old Hearing-Impaired Listeners

Trends in Hearing, 2018
Reverberation enhances music perception and is one of the most important acoustic factors in auditorium design. However, previous research on reverberant music perception has focused on young normal-hearing (YNH) listeners.
Paul N. Reinhart, Pamela E. Souza
doaj   +1 more source

Is Auditory Steady-State Response Testing the Key for Diagnosing Non-Organic Hearing Disorders? Implications for Current Audiological Practice. [PDF]

J Audiol Otol, 2022
Plioutas J, Vlastarakos PV, Delidis A, Vasileiou A, Nikolopoulos TP, Maragoudakis P.   +5 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Comparison between intratympanic injection of dexamethasone and methylprednisolone in idiopathic sudden sensorineural hearing loss: A randomized clinical trial

Laryngoscope Investigative Otolaryngology
Objective To compare the hearing outcomes of patients with idiopathic sudden sensorineural hearing loss after intratympanic (IT) injection of methylprednisolone and dexamethasone. Study design Randomized case‐controlled clinical trial.
Kourosh Eftekharian, Elnaz Najafi, Maryam Amizadeh, Noosheen Mokari, Mohammad Faramarzi, Yalda Izadparast, Yalda Jabbari Moghadam, Ali Eftekharian   +7 more
doaj   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Visual Cortical Processing in Children with Early Bilateral Cochlear Implants: A VEP Analysis

Children
Background/Objectives: Cochlear implantation is the primary treatment for severe-to-profound hearing loss, yet outcomes vary significantly among recipients.
Ola Badarni-Zahalka, Ornella Dakwar-Kawar, Cahtia Adelman, Salma Khoury-Shoufani, Josef Attias   +4 more
doaj   +1 more source

Clinical and investigational tools for monitoring noise-induced hyperacusis. [PDF]

J Acoust Soc Am, 2022
Jahn KN.
europepmc   +1 more source

The middle ear muscle reflex: Current and future role in assessing noise-induced cochlear damage. [PDF]

J Acoust Soc Am, 2023
Trevino M, Zang A, Lobarinas E.
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source