Results 101 to 110 of about 41,399 (306)

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]

, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE, Bereczki, C, Buono, R, Filosto, M, Padovani, A, Russignan, A, Scarpelli, M, Tonin, P, Zappini, F, Zombor, M   +9 more
core   +3 more sources

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

PLoS ONE, 2013
Background Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia.
C. Yu-Wai-Man, F. Smith, M. Firbank, Grant Guthrie, Stuart Guthrie, G. Gorman, Robert W. Taylor, D. Turnbull, P. Griffiths, A. Blamire, P. Chinnery, P. Yu‐Wai‐Man   +11 more
semanticscholar   +1 more source

Exenterate or Not: A Simple Proposed Management Algorithm for Mucormycosis During the Era of COVID-19 in a Tertiary Eye Care Center in Egypt

Clinical Ophthalmology, 2022
Reham Refaat Shabana, Mohamed Ashraf Eldesouky, Hazem A Elbedewy Department of Ophthalmology, Faculty of Medicine, Tanta University, Tanta, Gharbeya, EgyptCorrespondence: Hazem A Elbedewy, Department of Ophthalmology, Faculty of Medicine, Tanta ...
Shabana RR, Eldesouky MA, Elbedewy HA
doaj  

Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia

Indian Journal of Ophthalmology, 2014
Sphenoid sinus mucocele comprises only 2% of all paranasal sinus mucoceles. In literature, there is a case report on sphenoidal mucocele causing bilateral optic neuropathy, with unilateral partial recovery and cranial nerve palsy, but we did not come ...
Ambika Selvakumar, Balasubramanyam Mahalaxmi, V Ananth, Cugati Gautam   +3 more
doaj   +1 more source

Hidden density in single-family neighborhoods: Backyard cottages as an equitable smart growth strategy. [PDF]

, 2014
Chronic progressive external ophthalmoplegia (CPEO) is a manifestation of various disorders sharing a common pathophysiology of mitochondrial dysfunction leading to progressive extraocular myopathy.
Wegmann, Jake, Chapple, Karen
core  

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia [PDF]

, 2017
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease.
Hadjivassiliou, M., Hoggard, N., Ng, Y.S., Powell, H., Taylor, R.W., Turnbull, D.M.   +5 more
core   +1 more source

Incidence of pupillary involvement, course of anisocoria and ophthalmoplegia in diabetic Oculomotor nerve palsy

Indian Journal of Ophthalmology, 2013
Dear Editor, After going through the article published in the January 2013 issue on “Incidence of pupillary involvement, course of anisocoria and ophthalmoplegia in diabetic Oculomotor nerve palsy” I have few queries: Cases recruited in the
S. Bhandari, Dayakar Yadalla
semanticscholar   +1 more source

Ophthalmoplegia unveiled

Kerala Journal of Ophthalmology
Ophthalmoplegia work up is a diagnostic challenge. A perfect knowledge of the anatomy of the the orbital apex, superior orbital fissure, and cavernous sinus is essential for accurate localization and timely intervention. This article provides an overview
K Praveena, Elsa M. Kuruvilla, Mini Mathew   +2 more
doaj   +1 more source

Miller Fisher syndrome with sinus arrest [PDF]

, 2017
journal ...
ENOMOTO Tsuyoshi, Hoshino Sachiko, Kusunoki Susumu, Ohkoshi Norio, Shiraiwa Nobuko, TAMAOKA Akira, Umesawa Mitsumasa   +6 more
core   +2 more sources

Complications of vision loss and ophthalmoplegia during endoscopic sinus surgery

Clinical Ophthalmology, 2013
Objective To describe two rare cases of concurrent vision loss and external ophthalmoplegia following powered endoscopic sinus surgery (ESS). Design Observational case report.
I. Maharshak, J. Hoang, M. Tariq Bhatti, Tariq Bhatti   +3 more
semanticscholar   +1 more source