Results 91 to 100 of about 125,005 (308)

Evidence for glutamate-mediated excitotoxic mechanisms during photoreceptor degeneration in the rd1 mouse retina

, 2005
PURPOSE: Kinetic studies of photoreceptor cell death in the retinal degeneration (rd1) mouse model suggest that photoreceptor degeneration could result from cumulative damage.
Neveux, N, Forster, V, Picaud, S, Leveillard, T, Sahel, JA, Delyfer, MN   +5 more
core  

Explainable AI‐Driven Optimization of Electrode Activation Reduces Power Consumption While Preserving Object Recognition in Retinal Prostheses

Advanced Intelligent Systems, EarlyView.
Explainable artificial intelligence (XAI) guides selective electrode activation in retinal prostheses by emphasizing visually informative regions. XAI‐assisted phosphene generation maintains object recognition performance while significantly reducing stimulation power.
Sein Kim, Hamin Shim, Maesoon Im
wiley   +1 more source

Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific

, 2015
Despite different aetiologies, most inherited retinal disorders culminate in photoreceptor loss, which induces concomitant changes in the neural retina, one of the most striking being reactive gliosis by Müller cells.
Graca, AB, Pearson, RA, Hippert, C, Barber, AC, West, EL, Smith, AJ, Ali, RR   +6 more
core  

Diabetic Retinopathy Classification With Convolutional Neural Networks Designed by the Fuzzy Grey Wolf Optimizer With Parameter Adaptation

AI &Innovation, EarlyView.
ABSTRACT The detection and classification of diseases have become a field of interest for artificial intelligence in recent years, where the development of methods and models that allow support for specialists in different health fields has allowed early detection of diseases and the provision of timely treatment to patients.
Rodrigo Cordero‐Martínez, Daniela Sánchez, Patricia Melin   +2 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Late-Onset Retinal Degeneration: Clinical Perspectives

Clinical Ophthalmology, 2022
Leonardo Lando,1,2 Shyamanga Borooah1 1Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA; 2Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, CanadaCorrespondence: Shyamanga Borooah, Shiley Eye ...
Lando L, Borooah S
doaj  

Molecular genetic analysis of a "sine oculis" enhancer and the "leventina" gene as a model system to study human macular degeneration in "Drosophila" [PDF]

, 2004
The leventina gene as a model system to study human macular degeneration in Drosophila. Age-related macular degeneration (AMD) is one of the most frequent reasons for blindness of the elderly people and accounts for approximately 50% of registered ...
Pauli, Tobias Samuel
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source