Results 21 to 30 of about 348,278 (207)

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Morphometric Study of the Eyeball of the Loggerhead Turtle (Caretta caretta) Using Computed Tomography (CT)

Animals, 2023
Simple Summary There are few publications describing the use of advanced diagnostic imaging techniques in turtle ophthalmology. However, adequate knowledge of the anatomy of the eye and its associated structures, given their adaptations to be able to ...
Marcos Fumero-Hernández, Mario Encinoso Quintana, A. Ramírez, Inmaculada Morales Fariña, P. Calabuig, J. R. Jaber   +5 more
semanticscholar   +1 more source

Diabetic retinal neurodegeneration associated with synaptic proteins and functional defects: A systematic review

Endocrine and Metabolic Science, 2023
Diabetic retinopathy (DR) is the most common ophthalmological complication of diabetes mellitus (DM) and a leading cause of preventable visual impairment.
Siddhita Jadhav, Tos T.J.M. Berendschot, Govindasamy Kumaramanickavel, Eline E.B. De Clerck, Carroll A.B. Webers   +4 more
doaj   +1 more source

Taxane-Induced Neuropathy and Its Ocular Effects—A Longitudinal Follow-up Study in Breast Cancer Patients

Cancers, 2023
Simple Summary The study’s purpose was to determine whether neurotoxic signs in breast cancer patients receiving taxane (paclitaxel) chemotherapy correlate with retinal or corneal nerve changes in a longitudinal study combining oncological examinations ...
N. Stache, S. Bohn, K. Sperlich, Christian George, Karsten Winter, Friederike Schaub, Ha-Vy Do, Martin Röhlig, K. Reichert, Stephan Allgeier, O. Stachs, A. Stachs, K. Sterenczak   +12 more
semanticscholar   +1 more source

Use of digital retinography to detect vascular changes in pre-diabetic patients: a cross-sectional study

Diabetology & Metabolic Syndrome, 2023
Background Diabetic retinopathy (DR) is a common complication of DM and may go unnoticed until irreversible damage occurs. Its screening can contribute to the early detection.
Levimar Rocha Araújo, Juliana Lambert Orefice, Monica Aramuni Gonçalves, Nathalia Sernizon Guimarães, Aleida Nazareth Soares, Tassila Salomon, Alessandra Hubner de Souza   +6 more
doaj   +1 more source

Diagnostic Accuracy of Ultrasound in Detection of Traumatic Lens Dislocation

Archives of Academic Emergency Medicine, 2018
Introduction: Traumatic eye injuries (TEI) involved about 3% of cases referred to the emergency departments of developing countries. Lens dislocation is one of the critical cases of ophthalmic emergencies.
Seyed Hossein Ojaghi Haghighi, Hamid Reza Morteza Begi, Raana Sorkhabi, Mohammad Kazem Tarzamani, Golshan Kamali Zonouz, Akram Mikaeilpour, Farzad Rahmani   +6 more
doaj   +1 more source

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core   +1 more source

Pseudophakic cystoid macular edema: update 2016 [PDF]

, 2016
Pseudophakic cystoid macular edema (PCME) is the most common complication of cataract surgery, leading in some cases to a decrease in vision. Although the pathogenesis of PCME is not completely understood, the contribution of postsurgical inflammation is
Ascaso, Francisco J., Grzybowski, Andrzej, Huerva, Valentín, Sikorski, Bartosz L   +3 more
core   +4 more sources

Visual signs and symptoms in patients with the visual variant of Alzheimer disease. [PDF]

, 2015
BACKGROUND: Prominent visual symptoms can present in the visual variant of Alzheimer's disease (VVAD). Ophthalmologists have a significant role to play in the early diagnosis of VVAD.
Borruat, F.X., Ghika, J., Kaeser, P.F.
core   +1 more source