Extractions: References (3) Permissions View full size inline images AIDS Volume 15(11) 27 July 2001 p 1450 Woods, Marion L. ab ; Bartley, Paul B. b a Royal Brisbane Hospital, Infectious Diseases Unit, Brisbane, Australia; and b Queensland Institute of Medical Research, Herston 4029, Queensland, Australia. Received: 30 March 2001; accepted: 4 April 2001. In response to the letter by Walker and Venhoff, we hypothesized that antiretroviral therapy, in particular stavudine, contributed to significant mitochondrial DNA deletions detected in the liver. Stavudine has been associated with lactic acidosis, in vivo , and with hepatic mtDNA depletion in an animal model In vitro , stavudine has been shown to be readily incorporated into DNA by human DNA polymerase γ resulting in DNA chain termination [3]. Stavudine so incorporated is ineffeciently removed by the inherent exonuclease activity of human DNA polymerase γ. The authors suggest that ''the cytotoxicity from dideoxynucleosides and D4T is primarily due to incorporation and persistence in mtDNA [3]. Persistent incorporation of stavudine into the hepatic mtDNA of our patient could have led to the large mtDNA deletions found. The close temporal association of the administration of high doses of indomethacin, known to uncouple oxidative phosphorylation in mitochondria, with the acute presentation of lactic acidosis was consistent with acute mitochondrial dysfunction in hepatic mitochondria already severely affected by mtDNA deletions. We stated that virtually no full-length (16 569 bp) hepatic mtDNA was detected. Most of the hepatic mtDNA existed as one of five forms ranging from 2900 to 8500 bp.
KSS - Kearns-Sayre Syndrome syndrome and a case of chronic progressive external ophthalmoplegia. Progressive external ophthalmoplegia ( PEO) and KearnsSayre syndrome ( KSS) http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/89764.html
Extractions: Mitochondrial DNA The first mutations in mitochondrial DNA were discovered in 1988 and since that time a great deal of knowledge has accumulated on mitochondrial disorders. Mitochondrial DNA encodes 13 polypeptides which are integral components of mitochondrial respiratory chain essential for aerobic metabolism. In addition, mitochondrial DNA encodes 22 transfer RNA's and 2 ribosomal RNAs used in mitochondrial protein synthesis. Mitochondrial phenotypes are caused by gross structural rearrangements (single deletions, multiple deletions or duplications) or point mutations in the mitochondrial DNA. Mutations with potential to cause lethal impairment of oxidative phosphorylation (gross structural rearrangements or point mutations in critical regions) are viable only if they are heteroplasmic ( that is, the cells contain both wild type and mutant mitochondrial DNA). The majority of milder missense mutations in protein coding regions are heteroplasmic. Homoplasmy is the presence of completely mutant or completely normal mitochondrial DNA.
Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Carlow, T. J. Articles by Orrison, W. W., Jr TJ Carlow, MH Depper and WW Orrison Jr Department of Radiology, the University of New Mexico, Albuquerque, USA. PURPOSE: Our goal was to determine whether the extraocular muscles in patients with chronic progressive external ophthalmoplegia (CPEO) could be distinguished from those of age-matched control subjects by MR imaging. METHODS: Nine patients with CPEO and eight age-matched healthy control subjects were studied. The extraocular muscles of eight of the patients (16 eyes) and all the control subjects (16 eyes) were measured digitally.
Extractions: Background This is a heterogenous groups of disorders all sharing DNA mutations or deletions within mitochondrial DNA. Mitochondrial ATP production via oxidative phosphorylation (OXPHOS) is essential for normal function and maintenance of human organ systems. Since OXPHOS biogenesis depends on both nuclear- and mitochondrial-encoded gene products, mutations in both genomes can result in impaired electron transport and ATP synthesis, thus causing tissue dysfunction and, ultimately, human disease. Mitochondria have a pivotal role in cell metabolism, being the major site of ATP production via oxidative phosphorylation (OXPHOS). They also have a critical role in apoptotic cell death; and they also contribute to human genetics since mitochondria have a functional genome separate from that of nuclear DNA. Outline
Extractions: The Department of Ophthalmology and Visual Sciences includes a general ophthalmology clinic and seven subspecialty clinics, each with exceptional depth of experience. The Department is the tertiary care center for the State of Michigan and serves as a major referral center for the region. Our patients come from across the country and around the world. The Department is part of the University of Michigan Health System and shares its mission of excellence in clinical care, research, and education. Physicians at UMHS represent virtually every medical specialty and conduct some 1.5 million patient visits each year. The UM Medical School graduates 170 physicians annually, and, like the larger Health System, is consistently ranked as one of the top institutions in the nation. Clinical Practices:
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. External ophthalmoplegia-retinitis pigmentosa-heart block syndrome, heart block-retinitis pigmentosa-ophthalmoplegia syndrome, oculocraniosomatic disease, oculo-cranio-somatic neuromuscular disease, oculopharingeal muscular dystrophy, ophthalmoplegia-pigmentary retinal degeneration-cardiomyopathy syndrome, ophthalmoplegia, ophthalmoplegia-retinal degeneration syndrome, and ophthalmoplegic retinal degeneration syndrome.
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by McComish, M. Articles by Jewitt, D. M McComish, A Compston and D Jewitt This report describes heart disease in a 32-year-old man with the syndrome of chronic progressive external ophthalmoplegia (CPEO). The surface electrocardiogram showed first degree AV block and left bundle- branch block and there was HV prolongation on the His bundle electrogram. Endomyocardial biopsy showed the changes of hypertrophy on light microscopy, and on electron microscopy there were increased numbers of
Ophthalmic Pearls - Sept. 2003 Patients with chronic progressive external ophthalmoplegia may present withpigmentary retinopathy and symmetric strabismus. A history of respiratory or http://www.aao.org/aao/news/eyenet/pearls/pearls_sept_2003.htm
Extractions: var gMenuControlID=0; var menus_included = 0; var jsPageAuthorMode = 0; var jsSessionPreviewON = 1; var jsDlgLoader = 'loader.htm'; var jsSiteID = 1; var jsSubSiteID = 144; var kurrentPageID = 29350; document.CS_StaticURL = "http://testaao.sf.aao.org/"; document.CS_DynamicURL = "http://testaao.sf.aao.org/"; September 2003 Feature Patient Compliance: 9 Steps for Success MOC Takes Flight Ophthalmic Pearls Evaluating and Managing Congenital Ptosis Clinical Update Cornea Refractive Retina Other Departments News in Review Morning Rounds Journal Highlights Opinion ... EyeNet Magazine Ophthalmic Pearls / Pediatrics Evaluating and Managing Congenital Ptosis By Kimberly G. Yen, MD, Michael T. Yen, MD, and Richard L. Anderson, MD Syndromes such as congenital fibrosis, blepharophimosis and Moebius syndrome also should be considered. And while myasthenia gravis, chronic progressive external ophthalmoplegia and myotonic dystrophy are rare causes of ptosis in an infant, they are important diseases to recognize because of their systemic manifestations. Myasthenia gravis should be considered in patients who present with concurrent varying motility measurements or if the ptosis worsens markedly throughout the day. Patients with chronic progressive external ophthalmoplegia may present with pigmentary retinopathy and symmetric strabismus. A history of respiratory or feeding difficulties, hypotonia and facial diplegia in an infant could be associated with myotonic dystrophy.
Extractions: Abbreviations used: c oxidase; CS, citrate synthase. To whom correspondence should be addressed. Abstract Introduction The metabolic consequences of large rearrangements of mitochondrial DNA in skeletal muscle of patients with mitochondrial myopathies remain unclear [ ]. These problems may be attributed to various reasons. First, the heteroplasmic occurrence of the mtDNA mutation; second, the unpredictable mosaic distribution of mtDNA mutations in the affected tissue; third, unknown individual effects of various mutations; and fourth, difficulties in the quantitative determination of respiratory chain-enzyme activities and the degree of heteroplasmy of the mtDNA in skeletal muscle. In contrast, in cell cultures containing well-defined amounts of heteroplasmic mtDNA for different mutations, so-called threshold values have been defined beyond which each mutation had an effect on the activity of mtDNA-encoded enzymes. For various tRNA point mutations this threshold has been determined to be above 85% of mutated mtDNA [ In this report we studied the metabolic consequences of deficiencies of enzymes of the mitochondrial respiratory chain in skeletal muscle by applying different techniques: enzyme-activity measurements with improved methods and investigation of saponin-permeabilized muscle fibres with respirometric, fluorimetric and imaging techniques.
607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND unrelated patients with adult onset of severe sensory ataxic neuropathy inassociation with dysarthria and chronic progressive external ophthalmoplegia. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:607459] -e
: The AMEDEO Literature Guide Familiar chronic progressive external ophthalmoplegia of mitochondrial originRev Neurol 2004;3810237. PubMed Related articles Abstract available http://www.amedeo.com/medicine/eye/revneu.htm
Extractions: 25 patients with chronic progressive external ophthalmoplegia were studied.A total of 23 (92%) patients had an exo-deviation, with six (26%) of those having an associated vertical deviation: 12 patients were binocular. Of the 13 patients with a manifest deviation seven had diplopia and six had suppression. Of all paired extra-ocular muscles (EOM), 68% had symmetry of movement within 5° of each other.
BAM 10 (3) Metabolic and Muscle Adaptation to Aerobic Training in Patients Affected bychronic progressive external ophthalmoplegia. Gabriele Siciliano, Maria L Manca, http://www.bio.unipd.it/bam/bam10-3.htm
Karger Publishers 18 Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P,Fardeau M chronic progressive external ophthalmoplegia with raggedred http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Wong, L-J C Articles by Enns, G M Related Collections Online mutation reports
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Solano, A Articles by Montoya, J Related Collections Online mutation reports
Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Saiwaki, T Articles by Fushiki, S Related Collections Other Neurology
