Results 41 to 50 of about 37,376 (257)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Transient Sleep Deprivation Induces Persistent Auditory Neuropathy via ROS‐Initiated Neuroinflammation and BK Channel Suppression

Advanced Science, EarlyView.
Sleep disturbance severity closely tracks hearing loss in a clinical cohort, yet the mechanistic link remains unclear. Acute sleep deprivation is shown to trigger transient cochlear oxidative stress that switches into a self‐sustaining neuroinflammatory state, suppressing BK channels and causing irreversible synaptopathy.
Dan Chen, Ying Ma, Lixuan Huang, Xin Chen, Fanliang Kong, Zhenzhou Qian, Mingyue Guan, Xinlin Wang, Yanyan Yang, Shasha Zhang, Peng Li, Renjie Chai   +11 more
wiley   +1 more source

Internet and Audiology : A Review of the Third International Meeting

, 2018
Purpose: In this introduction, the four members of the scientific committee for the Third International Meeting on Internet and Audiology describe the meeting that took place at the University of Louisville on July 27-28, 2017. Method: This special issue,
Laplante-Lévesque, Ariane,, Saunders, Gabrielle H.,, Preminger, Jill E.,, Hughes, Michelle L.,   +3 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Translational Research in Audiology: Presence in the Literature

Audiology Research, 2022
Translational research is a process that focuses on advancing basic research-based clinical solutions and is characterized by a structured process accelerating the implementation of scientific discoveries in healthcare.
Agnieszka J. Szczepek, Ewa Domarecka, Heidi Olze   +2 more
doaj   +1 more source

Internet and Audiology: A Review of the First International Meeting

, 2015
Purpose: The purpose of this research forum article is to describe the impetus for holding the First International Meeting on Internet and Audiology (October 2014) and to introduce the special research forum that arose from the meeting.
Lunner, Thomas,, Preminger, JE, Laplante-Levesque, A, Andersson, Gerhard,, Laplante-Lévesque, Ariane,, Lunner, T, Preminger, Jill E.,, Andersson, G,   +7 more
core   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Hearing Loss in Mucopolysaccharidosis

International Archives of Otorhinolaryngology, 2021
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical ...
Cibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, Angelina Xavier Acosta   +3 more
doaj   +1 more source

Profession‐Related Accreditation Requirements in Australia Regarding Anatomy Teaching: A Web‐Based Desktop Audit

Clinical Anatomy, EarlyView.
ABSTRACT For effective and safe practice, health professionals need an understanding of functional anatomy. Registration boards, councils or self‐regulating professional associations determine the standards, codes, graduate competencies and education program accreditation requirements which inform health curricula development and content.
Anita Zacharias, Daniel J. English, Jennifer Selkirk‐Bell, Kelly Fielden, Bradley Halliday, Carol McKinstry   +5 more
wiley   +1 more source

Reimagining grommet follow-up care: audiology-led outcomes and cost comparison with ENT (Ear, Nose and Throat) and nurse-led models

BMC Health Services Research
Background Grommet insertion is one of the most common surgeries in childhood. While post-operative care has been traditionally provided by Ear, Nose and Throat (ENT) specialists, workforce capacity challenges have led to the delegation of care to ...
Michelle A. Pokorny, Marie-Anne Snackers, Paul Phibbs, Alan McCulloch   +3 more
doaj   +1 more source