Results 31 to 40 of about 6,062 (167)

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

Brain Network Dynamics of Local and Global Predictive Processing in Aging

Advanced Science, EarlyView.
Separation of concurrent whole‐brain networks in source‐reconstructed magnetoencephalography (MEG) data suggests that healthy aging reorganizes, rather than uniformly attenuates, neural responses elicited from hierarchical auditory violations. Enhanced early sensory deviance processing alongside reduced higher‐order cognitive responses suggests a large‐
Mathias Houe Andersen, Gemma Fernández‐Rubio, David R. Quiroga‐Martinez, Mattia Rosso, Mathias Klarlund, Kit Melissa Larsen, Hartwig Roman Siebner, Morten L. Kringelbach, Peter Vuust, Leonardo Bonetti   +9 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

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

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

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

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

Demystifying the Specific Roles and Challenges of Educational Audiologists: A Narrative Review

Proceedings, 2022
Educational audiology is a critical subspecialty in the field of audiology. An educational audiologist is responsible for providing services to hearing-impaired children in educational settings.
Mohd Fadzil Nor Rashid, Tian Kar Quar, Nashrah Maamor, Foong Yen Chong, Mohd Normani Zakaria, Mazlina Che Mustafa, Hasrul Hosshan   +6 more
doaj   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Narrative review on embracing advances in technology for clinical teaching and learning in audiology: opportunities delivered by COVID-19 to the South African academy

Frontiers in Education
BackgroundThe COVID-19 pandemic precipitated a global shift in education and healthcare delivery, including the field of audiology. In South Africa, the sudden transition to remote learning and tele-healthcare posed unique challenges, particularly given ...
Katijah Khoza-Shangase
doaj   +1 more source