Extractions: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend 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 Kuriyama, M. Articles by Igata, A. M Kuriyama, M Suehara, N Marume, M Osame and A Igata We studied lactate and pyruvate concentrations in CSF and blood of a patient with Kearns-Sayre syndrome (KSS), 3 patients with ocular myopathy and 11 normal control subjects. We found significant elevation of lactate and pyruvate in the CSF of the patient with KSS, suggesting a disorder of CNS lactate-pyruvate metabolism.
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Extractions: Vol Page [Advanced] This Article Full Text 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 ... Download to citation manager PubMed PubMed Citation Articles by Puoti, G Articles by Zeviani, M Journal of Medical Genetics G Puoti F Carrara S Sampaolo M De Caro C M Vincitorio F Invernizzi and M Zeviani Department of Neurosciences, School of Medicine, Federico II State University, Naples, Italy
Extractions: This article has been cited by other articles: Barragan-Campos, H. M., Vallee, J.-N., Lo, D., Barrera-Ramirez, C. F., Argote-Greene, M., Sanchez-Guerrero, J., Estanol, B., Guillevin, R., Chiras, J. (2005). Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies. Arch Neurol [Abstract] [Full Text] Remes, A. M., Majamaa-Voltti, K., Karppa, M., Moilanen, J. S., Uimonen, S., Helander, H., Rusanen, H., Salmela, P. I., Sorri, M., Hassinen, I. E., Majamaa, K. (2005). Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology [Abstract] [Full Text] Michaelides, M, Moore, A T (2004). The genetics of strabismus.
ICON Health Publications -- Home Page OPHTHALMOPLEGIA PLUS syndrome related to kearnssayre syndrome OPHTHALMOPLEGIA PLUS syndrome related to MITOCHONDRIAL MYOPATHIES http://www.icongrouponline.com/health/healthO.html
Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Charles, R. Articles by Rees, J. R. R Charles, S Holt, JM Kay, EJ Epstein and JR Rees A right ventricular endomyocardial biopsy specimen from a 30-year-old male with chromic progressive external ophthalmoplegia, retinal pigmentation and complete atrioventricular block (Kearns-Sayre syndrome) was examined in the electron microscope. There was a proliferation of mitochondria between the myofibrils and beneath the sarcolemma. Many of the mitochondria showed morphologic abnormalities not previously described in this condition. There were associated accumulations of glycogen. A similarly affected female with left anterior hemiblock developed complete atrioventricular block at age 26 years, Despite the ultrastructural changes, clinically detectable
Extractions: Vol. 136 No. 11, November 1, 1976 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Butler IJ Gadoth N Contact me when this article is cited I. J. Butler and N. Gadoth The syndrome of a slowly progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was described by Kearns and Sayre in 1958. In patients with this triad, other neurological deficits may occur with associated abnormalities of the electrocardiogram, electroencephalogram, audiogram, and an elevation of protein in cerebrospinal fluid. The onset of a potentially lethal cardiac dysrhythmia
Extractions: 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 article to a friend 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 Seigel, R. S. Articles by Allen, R. J. RS Seigel, JF Seeger, TO Gabrielsen and RJ Allen Computed tomography (CT) in patients with oculocraniosomatic disease (OCSD) or Kearns-Sayre syndrome has not been previously reported to the authors' knowledge. CT scans were performed in 6 children and 3 adults with OCSD. Abnormalities in children included: intracranial calcifications (4 patients); white matter disease (3 patients); cerebellar hypoplasia (1 patient); and scattered areas of decreased density in the cerebellar
Extractions: Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. Although the HTM Designer materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.
Kearns-Sayre Syndrome » Medical Diagnosis And Advice kearnssayre syndrome. Medical Diagnosis Advice » K » kearns-sayre syndrome. Medical Diagnosis and Advice Search » A » B » C » D » E » F » G » H » I http://www.htmdesigner.com/diag/K/medical-diagnosis-terms-Kearns_Sayre_syndrome.
Extractions: Z Kearns-Sayre syndrome Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. 378.55 external ophthalmoplegia
Extractions: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted 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 Fischel-Ghodsian, N. Articles by Edwards, M. J. N Fischel-Ghodsian, MC Bohlman, TR Prezant, JM Graham Jr, SD Cederbaum and MJ Edwards Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048. Mitochondrial DNA deletions have been described in the Kearns-Sayre syndrome (KSS) and the Pearson's marrow-pancreas syndrome. In some cases, the same 4,977-bp deletion has been identified in these two very different diseases. Therefore, it is not currently possible to predict the clinical phenotype from the size or location of the deletion. Instead, differential
Extractions: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted 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 ... Cited by other online articles PubMed PubMed Citation Articles by Larsson, N. G. Articles by Tulinius, M. NG Larsson, E Holme, B Kristiansson, A Oldfors and M Tulinius Department of Clinical Chemistry, Gothenburg University, Sahlgrens Hospital, Sweden. We have performed morphologic and biochemical studies in three pediatric cases of Kearns-Sayre syndrome. All cases had heteroplasmy with a high percentage of mitochondrial DNA (mtDNA) with deletion in muscle. The deletions were mapped to the same region of mtDNA but were of different sizes. The same type of deletion could also be detected in fibroblasts from
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 Channer, K. S. Articles by Rees, J. R. KS Channer, JL Channer, MJ Campbell and JR Rees Department of Cardiology, Bristol Royal Infirmary. The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of
Extractions: This Article Order Full text via Infotrieve 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 article to a friend 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 Ota, Y. Articles by Ozawa, T. Y Ota, M Tanaka, W Sato, K Ohno, T Yamamoto, M Maehara, T Negoro, K Watanabe, S Awaya and T Ozawa Department of Ophthalmology, Faculty of Medicine, University of Nagoya, Japan. To establish a noninvasive genetic diagnosing method for Kearns-Sayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting mitochondrial DNA (mtDNA) deletions in the platelets and directly sequenced the crossover regions of the deleted mtDNA using the fluorescence-based automated sequencing system. The mtDNA deletions were
Extractions: Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.
Kearns-Sayre Syndrom - Små Och Mindre Kända Handikappgrupper kearnssayre syndrom (KSS) beskrevs först år 1958 och är en fortskridande multisystemsjukdom, Deletions of mitochondrial DNA in kearns-sayre syndrome. http://www.sos.se/smkh/1999-29-090/1999-29-090.htm
Extractions: HTML-version 1.2 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Symtom centrala nervsystemet endokrina organ muskulaturen, Praktiska tips Resurspersoner Med dr Atle Melberg, Neurocentrum, Akademiska sjukhuset, 751 85 Uppsala, tel 018-616 30 00, fax 018-55 92 63.
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 McKechnie, N. M. Articles by Lee, W. R. British Journal of Ophthalmology, 1985, Vol 69, 63-75 NM McKechnie, M King and WR Lee
CMGS-Mitochondrial Inheritance (2)/ 16.11.99 kearnssayre syndrome (KSS) is characterised by progressive external kearns-sayre syndrome- mutant mitochondria are more localised to muscle and CNS. http://www.ich.ucl.ac.uk/cmgs/mt2inh99.htm
Extractions: th November 1999 MITOCHONDRIAL INHERITANCE (2) Mitochondria segregation/Mitochondrial bottleneck There are several thousand mitochondria per mammalian cell and each mitochondrion has 2-10 copies of mtDNA. mtDNA is inherited from the maternal oocyte and these cells have many more mtDNA molecules than somatic cells (~100,000 copies). During oogenesis, the number of mitochondria per cell increases by 100 fold, while the number of mtDNA per mitochondrion falls to about 1 or 2. mtDNA replication probably resumes at the blastocyst stage (Howell 1992, Hammans 1993). If a new mutation arises on a single molecule, it needs to proliferate to become fixed in the population and replace the other copies. Conventionally, fixation of alleles in the nuclear genome is by recombination. The fixation rates for mtDNA is 10 times that for nuclear DNA, however, mtDNA does not undergo recombination events. One explanation is a bottle neck occurs during oogenesis. As the actual number of mtDNA molecules is exceptionally high, the bottleneck could take the form of selective amplification during oogenesis. The bottleneck theory developed from observations of heteroplasmy of polymorphic mtDNA in Holstein cows. Complete switching of the mtDNA type can occur in very few generations, even a single one, suggesting the bottleneck could be from very few or even a single mtDNA molecule.
