Results 61 to 70 of about 2,133 (164)

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

BMC Ophthalmology, 2019
Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi   +7 more
doaj   +1 more source

Advancements in multiple sclerosis

Internal Medicine Journal, Volume 55, Issue 6, Page 895-904, June 2025.
Abstract The global prevalence of multiple sclerosis (MS) is increasing, and early diagnosis and treatment is essential in mitigating disability. While recent therapeutic advancements have significantly reduced relapse rates, the progressive and degenerative aspects of MS continue to pose major challenges.
Turlough Montague, James Drummond, Karl Ng, John Parratt   +3 more
wiley   +1 more source

Impact of congenital dyschromatopsia: Construction an evaluation questionnaire in the adultss life

, 2015
Disfunções na percepção das cores, i.e. discromatopsias, podem ocorrer por um grande número de causas, sejam estas congênitas ou adquiridas. A possibilidade de cura torna premente a necessidade de se conhecer os impactos das discromatopsias sobre a vida ...
Bastos, Amanda Martins
core   +1 more source

CB1 Receptor Antagonist Selonabant (ANEB‐001) Blocks Acute THC Effects in Healthy Volunteers: A Phase II Randomized Controlled Trial

Clinical Pharmacology &Therapeutics, Volume 117, Issue 5, Page 1427-1436, May 2025.
Emergency department visits due to cannabinoid‐induced toxicity, including acute cannabinoid intoxication (ACI) have increased worldwide as more states have liberalized cannabis policy. ACI symptoms include anxiety, panic attacks, tachycardia, and psychosis, primarily mediated through cannabinoid type 1 receptor (CB1) agonism by Δ9‐tetrahydrocannabinol
Andriy A. Gorbenko, Jules A. A. C. Heuberger, Maria Juachon, Erica Klaassen, Michael Tagen, Joseph F. Lawler, Daniel Schneeberger, Kenneth C. Cundy, Linda E. Klumpers, Geert J. Groeneveld   +9 more
wiley   +1 more source

Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency

Frontiers in Neuroscience
Color blindness is a retinal disease that mainly manifests as a color vision disorder, characterized by achromatopsia, red-green color blindness, and blue-yellow color blindness.
Zihao Yang, Zihao Yang, Lin Yan, Lin Yan, Wenliang Zhang, Wenliang Zhang, Jia Qi, Jia Qi, Wenjing An, Wenjing An, Kai Yao, Kai Yao   +11 more
doaj   +1 more source

Tacrolimus‐Related Neurotoxicity of the Pons in Children: Review of the Literature and a Case Report

Annals of the Child Neurology Society, Volume 3, Issue 1, Page 41-45, March 2025.
Abstract Introduction Tacrolimus is a potent immunosuppressive agent effective in preventing solid organ transplant rejection. It is widely used following allogeneic liver, kidney, heart, and bone marrow transplantation. Tacrolimus‐related neurotoxicity, which can present in up to one‐third of patients, manifests with a broad clinical spectrum ...
Amy Hill, Mohamed Bilal Haradwala, Jean‐Baptiste Le Pichon   +2 more
wiley   +1 more source

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

BMC Medical Genetics, 2018
Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal
Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan   +6 more
doaj   +1 more source

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
Abstract Heterozygous mutations in the OPA3 gene are associated with autosomal dominant optic atrophy‐3 (OPA3), whereas biallelic mutations cause autosomal recessive 3‐methylglutaconic aciduria type III. To date, all cases with pathogenic variants in the gene OPA3 have presented with optic atrophy.
Monica Penon‐Portmann, Kendyl Naugle, Frank Brodie, Julie Schallhorn, Paul Griggs, Joyce So   +5 more
wiley   +1 more source

Cop>right <D Association for Kcsi'arch in Vision and Ophthalmology The Dyschromatopsia of Opric Neuritis Is Determined in Part by the Foveal/Perifoveal Distribution of Visual Field Damage

, 2020
Most hypotheses of acquired dyschromatopsia invoke the mechanism of selective damage to specific components of the afferent visual system to explain the predominance of red-green and blue-yellow hue-discrimination defects found in neural and retinal ...
Mae O Gordon, William M Harr Jr, Charles Kilof, Scorr E Silverman   +3 more
core  

Evaluating Color Deficiencies in Patients With Optic Neuropathies

, 2022
Among the key hallmarks of optic neuropathies is dyschromatopsia[1]. Quantitating dyschromatopsia is important as a study endpoint; however, common color vision testing methods have limitations or confounding variables[2].
Lauren Ciulla; David Gu; Neena Cherayil; Nicholas Volpe; Shira Simon
core