Results 41 to 50 of about 94,072 (265)

The Relative and Combined Effects of Noise Exposure and Aging on Auditory Peripheral Neural Deafferentation: A Narrative Review

Frontiers in Aging Neuroscience, 2022
Animal studies have shown that noise exposure and aging cause a reduction in the number of synapses between low and medium spontaneous rate auditory nerve fibers and inner hair cells before outer hair cell deterioration.
Adnan M. Shehabi, Adnan M. Shehabi, Garreth Prendergast, Christopher J. Plack, Christopher J. Plack   +4 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

The impact of face coverings on audio-visual contributions to communication with conversational speech

Cognitive Research
The use of face coverings can make communication more difficult by removing access to visual cues as well as affecting the physical transmission of speech sounds.
I. R. Jackson, E. Perugia, M. A. Stone, G. H. Saunders   +3 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Cognitive skills and reading in adults with Usher syndrome type 2

Frontiers in Psychology, 2015
Objective: To investigate working memory, phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2).Design: The participants performed tests of phonological processing, lexical access, working memory and ...
Cecilia eHenricson, Cecilia eHenricson, Cecilia eHenricson, Björn eLyxell, Björn eLyxell, Björn eLyxell, Björn eLidestam, Björn eLidestam, Björn eLidestam, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller   +12 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Word Learning Ability Varies Across Contexts and Time: A Longitudinal Study of Primary School Children with Developmental Language Disorder

Autism and Developmental Language Impairments
Background and Aims Children with developmental language disorder (DLD) have difficulty learning new words, but we know little about whether and to what extent their word-learning ability improves over time.
Karla K. McGregor, Nichole Eden, Timothy Arbisi-Kelm, Jacob Oleson   +3 more
doaj   +1 more source

Adverse events in bedaquiline‐ and pretomanid‐based regimens for drug‐resistant tuberculosis from trial, implementation and pharmacovigilance studies

British Journal of Clinical Pharmacology, EarlyView.
Abstract The availability of safety data, particularly concerning adverse events (AEs) associated with the new shorter regimen for drug‐resistant tuberculosis (TB) containing a bedaquiline–pretomanid‐based regimen, is still limited. This systematic review aims to provide a comprehensive and updated analysis of AEs related to this new regimen by ...
Nisa Maria, Annisa Lazuardi Larasati, Indri Yuliani Hamdani, Jin‐Gun Cho, Jan‐Willem C. Alffenaar   +4 more
wiley   +1 more source

Cisplatin is retained in the cochlea indefinitely following chemotherapy

Nature Communications, 2017
Permanent hearing loss occurs in many cancer patients treated with cisplatin. In this study, the authors examine cisplatin pharmacokinetics in the cochleae of mice and humans showing that cisplatin is retained for months to years after treatment.
Andrew M. Breglio, Aaron E. Rusheen, Eric D. Shide, Katharine A. Fernandez, Katie K. Spielbauer, Katherine M. McLachlin, Matthew D. Hall, Lauren Amable, Lisa L. Cunningham   +8 more
doaj   +1 more source

Synaptic mitochondria regulate hair-cell synapse size and function

eLife, 2019
Sensory hair cells in the ear utilize specialized ribbon synapses. These synapses are defined by electron-dense presynaptic structures called ribbons, composed primarily of the structural protein Ribeye.
Hiu-tung C Wong, Qiuxiang Zhang, Alisha J Beirl, Ronald S Petralia, Ya-Xian Wang, Katie Kindt   +5 more
doaj   +1 more source