61. AIDS - Fulltext: Volume 15(11) July 27, 2001 P 1450 Response To 'Multiple Mitoch Interestingly, none of the patients with chronic progressive external ophthalmoplegiahad detectable mtDNA deletions. Our patient did not have hepatic http://www.aidsonline.com/pt/re/aids/fulltext.00002030-200107270-00021.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Response to 'Multiple mitochondrial... ARTICLE LINKS: References (3) Permissions View full size inline images AIDS Volume 15(11) 27 July 2001 p 1450 Response to 'Multiple mitochondrial DNA deletions and lactic acidosis in an HIV-infected patient under antiretroviral therapy' 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.

62. 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

We studied the metabolism of coenzyme (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome (KSS). Abstract-5158039 Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA : a clinical and molecular genetic study of four children with Kearns-Sayre syndrome Abstract-975224 We believe that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns-Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome Abstract-4809859 Finally, the transcription of the nuclear ATPsyn.beta and genes was induced in parallel with the high level of mtDNA transcripts in MERRF and MELAS muscle , but was repressed in KSS muscle Abstract-7788853 Kearns-Sayre syndrome and hypoparathyroidism Abstract-3019380 Kearns-Sayre syndrome with hypoparathyroidism Abstract-3035305 Treatment of Kearns-Sayre syndrome with coenzyme Abstract-5158039 Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome Abstract-5233209 Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome Abstract-5017336 Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome Abstract-8840146 Kearns-Sayre syndrome

63. CMGS-Mitochondrial Disease And Its Molecular Analysis/16.1.98 in 1989 showed the following Deletions were found in 78% of KearnsSayrepatients, 56% of chronic progressive external ophthalmoplegia-plus patients, http://www.ich.ucl.ac.uk/cmgs/mitodis.htm

Mitochondrial disease and its molecular analysis 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. Mitochondrial Diseases Organs highly dependent on oxidative phosphorylation such as nervous system and heart are most vulnerable to mutations in mitochondrial DNA. Some of the principal mitochondrial disorders are summarised below although there are numerous variants and subgroups known.

64. MR Of Extraocular Muscles In Chronic Progressive External Ophthalmoplegia -- Car PURPOSE Our goal was to determine whether the extraocular muscles in patientswith chronic progressive external ophthalmoplegia (CPEO) could be http://www.ajnr.org/cgi/content/abstract/19/1/95

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: 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 ARTICLES MR of extraocular muscles in chronic progressive external ophthalmoplegia 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.

65. Mitochondrial Myopathy Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia.Sorkin JA, Shoffner JM, Grossniklaus HE, Drack AV, Lambert SR. http://www.thedoctorsdoctor.com/diseases/mitochondrial_myopathy.htm

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 Epidemiology Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants ... Commonly Used Terms EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Red ragged fiber disease INCIDENCE Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.

66. Department Of Ophthalmology & Visual Sciences: Scope Of Clinical Practice - Kell Benign essential blepharospasm and hemifacial spasm; Progressive supranuclearpalsy; chronic progressive external ophthalmoplegia; Visual hallucinations http://www.kellogg.umich.edu/education/clinical.html

We have 42 clinical faculty, 16 basic scientists, 60 laboratory staff and 200 support staff. Home Residency Clinical Practice Scope Residency Program Meet the Residents Day in the Life Research ... Henderson Library Scope of Clinical Practice 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: Cornea and External Ocular Disease and Refractive Surgery Eye Plastic, Orbital and Facial Cosmetic Surgery

67. Kearns-Sayre Syndrome (www.whonamedit.com) External ophthalmoplegiaretinitis pigmentosa-heart block syndrome, Spongiform Encephalopathy with chronic progressive external ophthalmoplegia. http://www.whonamedit.com/synd.cfm/1884.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. 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. A recommendation: Hypography is an open community about science and all things related Kearns-Sayre syndrome Also known as: Bernard-Scholz syndrome Kearns' syndrome Kearns-Shy syndrome Kearns-Sayre-Daroff syndrome Synonyms: 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. Associated persons: R. I. Barnard

68. Cardiac Abnormalities In Chronic Progressive External Ophthalmoplegia -- McComis Cardiac abnormalities in chronic progressive external ophthalmoplegia. M McComish,A Compston and D Jewitt. This report describes heart disease in a http://heart.bmjjournals.com/cgi/content/abstract/38/5/526

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69. 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

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 Edited by Ingrid U. Scott, MD, MPH, and Sharon Fekrat, MD Etiology Simple congenital ptosis usually is caused by the presence of a dystrophic levator muscle. Some cases, however, may also be associated with other etiologies. 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.

70. Biochem. Soc. Trans (2000) Volume 28, Part 2 - Organisms, Organs, Cells And Orga skeletal muscle of patients with chronic progressive external ophthalmoplegiaor Kearns–Sayre syndrome harbouring largescale deletions of mitchondrial http://www.biochemsoctrans.org/bst/028/0159/bst0280159.htm

About the journal Subscriptions Authors Users ... FAQs Biochem. Soc. Trans.. (2000) Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle 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.

71. 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

72. : 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

Home HIV Medicine FAQ Unsubscribe ... Flying Publisher Ophthalmology Free Subscription Articles published in Rev Neurol Retrieve available abstracts of 28 articles: HTML format Single Articles June 2005 SERNA-CANDEL C , Carneado-Ruiz J, Molto-Jorda JM [Neurovascular study in paresis of the ocular motor nerves.] Rev Neurol 2005;40:702-3. PubMed Related articles April 2005 MALLADA-FRECHIN J , Abellan-Miralles I, Alfaro-Beltra ML, Medrano V, et al [Retinopathy secondary to treatment with Interferon beta-1a in a patient with multiple sclerosis.] Rev Neurol 2005;40:482-4. PubMed Related articles Abstract available MALLADA-FRECHIN J , Abellan-Miralles I, Alfaro-Beltra ML, Medrano V, et al [Retinopathy secondary to treatment with Interferon beta-1a in a patient with multiple sclerosis.] Rev Neurol 2005;40:482-4. PubMed Related articles Abstract available September 2004 ESTEBAN-GARCIA A , Salinero-Paniagua E, Traba A, Prieto-Montalvo J, et al [Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain] Rev Neurol 2004;39:525-9.

73. Ophthalmology Review: Ocular Motility Findings In Chronic Progressive External O 25 patients with chronic progressive external ophthalmoplegia were studied.A totalof 23 (92%) patients had an exodeviation, with six (26%) of those having http://www.noorvision.com/weblog/archives/2005/03/ocular_motility.html

Ophthalmology Review Daily Notes in Ophthalmology Main March 11, 2005 Ocular motility findings in chronic progressive external ophthalmoplegia Eye,March,2005 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. Conclusion :Almost all patients had an exo-deviation. Diplopia was more common than expected. The majority of patients had symmetry of EOM limitation. Posted by afarahi at March 11, 2005 08:40 PM Comments

74. Mitochondrial Neurological Diseases: A Clinician’s Perspective Venna Nagagopal of chronic progressive external ophthalmoplegia, retinitis pigmentosa,sensoryneural deafness and cardiac conduction disturbances; chronic progressive http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2004;volume=52;iss

75. 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

BAM 10 (3), 2000 Articles 99 Changes in Ca -regulatory muscle membrane proteins during the chroni clow-frequency stimulation induced fast-to-slow transition process K Ohlendieck Full text pdf 673Kb Metabolic and muscle adaptation to aerobic training in patients affected by Chronic Progressive External Ophthalmoplegia G Siciliano, ML Manca, M Mancuso, LE Pollina, P Iacconi, and L Murri Full text pdf 148Kb Dynamic cardiomyoplasty: clinical experience after seven years C Werling, C Jungheim and W Saggau Full text pdf 190Kb Chronic aortic counterpulsation with latissimus dorsi: clinical follow-up cardiomyoplasty comparison J Trainini, J Barisani, J Mouras, EI Cabrera Fischer, and AI Christen Full text pdf 142Kb Validation of Doppler flow guidewire for peak aortic flow measurement in order to establishits sensitivity for recognition of cardiac assistance in Demand Dynamic Cardiomyoplasty G Rigatelli, M Barbiero, G Docali, M Zanchetta, L Pedon, A Baratto, P Maiolino, G Rigatelli, U Carraro, and S Dalla Volta

76. 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=

77. Compensatory Amplification Of MtDNA In A Patient With A Novel Deletion/duplicati Abbreviations CPEO, chronic progressive external ophthalmoplegia; CS, citratesynthase; KSS, KearnsSayre syndrome; mtDNA, mitochondrial DNA; PEO, http://jmg.bmjjournals.com/cgi/content/full/40/11/e125

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Genetics Journal of Medical Genetics BMJ Publishing Group Ltd ONLINE MUTATION REPORT Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load L-J C Wong C-L Perng C-H Hsu R-K Bai S Schelley G D Vladutiu H Vogel and G M Enns Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC, USA Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA Department of Pathology, Stanford University, Stanford, CA, USA

78. Characterisation Of Repeat And Palindrome Elements In Patients Harbouring Single Abbreviations CPEO, chronic progressive external ophthalmoplegia; KSS, KearnsSayresyndrome; mtDNA, mitochondrial DNA; PCR, polymerase chain reaction http://jmg.bmjjournals.com/cgi/content/full/40/7/e86

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Genetics Neurosciences Journal of Medical Genetics BMJ Publishing Group ONLINE MUTATION REPORT Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA A Solano F J Carod M Pineda A L Andreu and J Montoya Correspondence to: Keywords: single deletions; mtDNA; repeat elements; chronic progressive external ophthalmoplegia; Kearns-Sayre syndrome Abbreviations: CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; mtDNA, mitochondrial DNA; PCR, polymerase chain reaction

79. A Unique Junctional Palindromic Sequence In Mitochondrial DNA From A Patient Wit chronic progressive external ophthalmoplegia a correlative study of mitochondrialDNA deletion and their phenotypic expression in muscle biopsies. http://mp.bmjjournals.com/cgi/content/full/53/6/333

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Molecular Medicine J Clin Pathol: Mol Pathol Journal of Clinical Pathology Short report A unique junctional palindromic sequence in mitochondrial DNA from a patient with progressive external ophthalmoplegia T Saiwaki K Shiga R Fukuyama Y Tsutsumi and S Fushiki Department of Neurology and Gerontology, Research Institute for Neurological Diseases and Geriatrics, Kyoto Prefectural University of Medicine Correspondence: Dr Fushiki Accepted for publication April 11, 2000 .

80. Mutations In Mitochondrial TRNA Genes: Non-linkage With Syndromes Of Wolfram And (1) as associating with chronic progressive external ophthalmoplegia (CPEO).The other is aC to T transition mutation at np 15904 in tRNA(Thr) gene. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=312004

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