Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
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 +9 more
core +2 more sources
Diagnostic Accuracy of Ultrasound in Detection of Traumatic Lens Dislocation
Introduction:Â 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 +6 more
doaj +1 more source
Visual signs and symptoms in patients with the visual variant of Alzheimer disease. [PDF]
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
Mitochondrial disease in children : from clinical presentation to genetic background [PDF]
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
Efficacy of Simulator-Based Slit Lamp Training for Medical Students: A Prospective, Randomized Trial
Introduction Simulation training has an important role in medical education. In ophthalmology, simulation-based training has been shown to be significantly effective for surgical and diagnostic training in direct and indirect ophthalmoscopy.
Svenja Deuchler +6 more
doaj +1 more source
Pseudophakic cystoid macular edema: update 2016 [PDF]
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. +3 more
core +4 more sources
While the so-called pseudoaneurysms can result from arterial injury during trans-sphenoidal surgery or after a trauma, spontaneous aneurysms of cavernous–internal carotid artery (CICA) are rare.
Enzo Emanuelli +5 more
doaj +1 more source
Border Terriers under primary veterinary care in England: demography and disorders [PDF]
The Border Terrier is a working terrier type that is generally considered to be a relatively healthy and hardy breed. This study aimed to characterise the demography and common disorders of Border Terriers receiving veterinary care in England using de ...
A Agresti +66 more
core +2 more sources
The progress of diagnostics of inflammatory diseases of the uveal tract in a Russian region
Purpose. To study the progress of laboratory diagnostic techniques of the uveal tract of the eye in Omsk region. Material and methods. A retrospective research of medical histories of 8109 in-patients treated in V.P.
O. I. Lebedev +3 more
doaj +1 more source
POSSIBILITIES OF MODERN IMAGING TECHNIQUES IN DIAGNOSTICS OF OPTIC NERVE DRUSEN (LITERATURE REVIEW)
With the introduction and development of new diagnostic techniques, the relevance of drusen of the optic nerve diagnostics is increasing. Existing imaging techniques alone or in their various combinations cannot allow to confirm optic nerve drusen in all
E. E. Ioyleva +2 more
doaj +1 more source

