Results 141 to 150 of about 867,856 (267)
Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes +4 more
wiley +1 more source
CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids
CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang +19 more
wiley +1 more source
A South African Investigation Into Etiological and Background Factors in Developmental Dyslexia
Dyslexia, Volume 32, Issue 3, August 2026.ABSTRACT Understanding the etiological and background factors associated with developmental dyslexia (DD) is crucial for effective early identification, perceptive support, informed therapist management, and differentiated teacher instruction. A retrospective, cross‐sectional, and comparative research design was employed to investigate these factors in
Salomé Geertsema +9 more
wiley +1 more source
Spoken Word Recognition Errors in Speech Audiometry: A Measure of Hearing Performance? [PDF]
Biomed Res Int, 2015 Coene M, van der Lee A, Govaerts PJ.
europepmc +1 more source
Health Science Reports, Volume 9, Issue 8, August 2026.ABSTRACT Background Hydrogen sulfide (H2S) is an endogenous gasotransmitter regulating redox balance, inflammation, and vascular tone, but reproducing the spatial and kinetic features of endogenous production remains challenging. We examine sulfurous thermal waters as natural contexts of sustained H2S exposure, using the Saturnia springs (Tuscany ...
Elisabetta Ferrara +6 more
wiley +1 more source
Audiologic Assessment and Management of Teprotumumab-Associated Ototoxicity: An Updated Narrative Review. [PDF]
Audiol ResWilliams J +4 more
europepmc +1 more source
Health Science Reports, Volume 9, Issue 8, August 2026.ABSTRACT Background Presbycusis, an age‐related hearing disorder, affects communication, psychosocial functioning, and quality of life. Because its management requires long‐term engagement with rehabilitation and medication routines, psychological factors such as personality traits and coping styles may influence treatment adherence.
Zahra Davari +5 more
wiley +1 more source
Phoneme and Word Scoring in Speech-in-Noise Audiometry.
American Journal of Audiology, 2016 Curtis J. Billings +4 more
semanticscholar +1 more source