Results 51 to 60 of about 9,186 (248)

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease [PDF]

, 2016
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity.
Costello, H, Fratter, C, Hanna, MG, Harding, BN, Holton, JL, Jacques, TS, Jaunmuktane, Z, Pitceathly, RD, Rahman, S, Rajakulendran, S, Sweeney, MG, Taanman, JW, Woodward, CE   +12 more
core   +1 more source

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups. [PDF]

JIMD Rep
ABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritage, even in well‐studied populations.
Meldau S, McCormick EM, George-Sankoh I, Riordan GT, Khan K, MacMullen LE, Dawlat S, Blackhurst D, Falk MJ, Elson JL.   +9 more
europepmc   +2 more sources

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.

PLoS ONE, 2013
BackgroundChronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia.
Cynthia Yu-Wai-Man, Fiona E Smith, Michael J Firbank, Grant Guthrie, Stuart Guthrie, Grainne S Gorman, Robert W Taylor, Douglass M Turnbull, Philip G Griffiths, Andrew M Blamire, Patrick F Chinnery, Patrick Yu-Wai-Man   +11 more
doaj   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +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  

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study [PDF]

, 2010
Background It has been postulated that eye movement disorders in chronic progressive external ophthalmoplegia (CPEO) have a neurological as well as a myopathic component to them.
Chinnery, P. F., Davidson, A. W., Griffiths, P.G., Ritchie, A. E.   +3 more
core   +1 more source

An unusual reason for complete atrioventricular block ; Kearn Sayre Syndrome

Medicine Science, 2016
Kearn sayre syndrome (KSS) is a rare disease with a typical onset before 20 years and charactarized by triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and progressive cardiac conduction abnormalities.
Halil Atas, Fuad Samadov, Osman Yesildag
doaj   +1 more source

Orbital Complications of Acute Rhinosinusitis in Adulthood: Predictors of Outcome and Management

The Laryngoscope, EarlyView.
In a multicenter cohort of 213 adults with orbital complications of acute rhinosinusitis, 68% required surgery and the modified Chandler classification was the strongest predictor of treatment modality. While abscess‐related and type II complications frequently necessitated surgical management, final ophthalmologic outcomes were uniformly favorable ...
Alessandro Vinciguerra, Vittorio Rampinelli, Mario Turri‐Zanoni, Marco Ferrari, Marco Valentini, Alberto Daniele Arosio, Federico Raimondi, Florian Chatelet, Stefano Taboni, Davide Mattavelli, Alberto Schreiber, Fabio Sovardi, Matteo Barucco, Lorena Di Girolami, Piergiorgio Gaudioso, Antonio Daloiso, Giulia Danè, Umberto Tanzini, Nicola Tessari, Jessica Zuppardo, Kays Burak Cakir, Yetkin Zeki Yilmaz, Yasar Unlu, Andrea Ronchi, Stefania Gallo, Francesca De Bernardi, Vasileios Chatzinakis, Argyro Leventi, Fabio Pagella, Benjamin Verillaud, Giuseppe Mercante, Apostolos Karligkiotis, Mario Bussi, Cesare Piazza, Alperen Vural, Paolo Castelnuovo, Piero Nicolai, Maurizio Bignami, Christos Georgalas, Iacopo Dallan, Philippe Herman, Paolo Battaglia   +41 more
wiley   +1 more source

Assessment of acute headache in adults - what the general physician needs to know. [PDF]

, 2018
Headache is common. Up to 5% of attendances to emergency departments and acute medical units are due to headache. Headache is classified as either primary (eg migraine, cluster headache) or secondary to another cause (eg meningitis, subarachnoid ...
Agrawal, Cappelen-Smith, Dodick, Hoffmann, Mac Grory, Macdonald, omi, Savitz, Sheikh, Solomon   +9 more
core   +1 more source

An adjuvant therapy in cervical necrotising fasciitis: hyperbaric oxygen treatment

Medicine Science, 2016
Kearn sayre syndrome (KSS) is a rare disease with a typical onset before 20 years and characterized by triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and progressive cardiac conduction abnormalities.
Nuray Ensari, Ozer Erdem Gur, Mehmet Turker Ozturk, Irem Tezer, Oguzhan Ilden, Mustafa Deniz Yilmaz   +5 more
doaj   +1 more source