41. Service Page - Pathologie Information DISEASE kearnssayre syndrome, CIM H49.8, The onset of kearns-sayresyndrome occurs before age 20. It is marked by ophthalmoplegia http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=480

42. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for kearnssayre syndrome ALL-FIELDS.Modify Your Search. Individual Terms, Count. kearns-sayre syndrome , None. http://www.clinicaltrials.gov/search/term=Kearns-Sayre Syndrome

43. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for NINDS kearnssayre syndrome InformationPage ALL-FIELDS. NINDS kearns-sayre syndrome Information Page , None. Page , 7. http://www.clinicaltrials.gov/search/term=NINDS Kearns-Sayre Syndrome Informatio

44. Bloqueio Atrioventricular Total Em Síndrome De Kearns-Sayre kearns-sayre syndrome? 4. Channer KS, Channer JL,Campbell MJ, Rees JR - Cardiomyopathy in the kearns-sayre syndrome. http://www.epub.org.br/abc/6702/tago6.htm

Relato de Caso Universidade Federal Fluminense-UFF - Rio de Janeiro, RJ Arquivos Brasileiros de Cardiologia 67(2):, 1996 Relato do Caso Fig. 1 ragged red fibres Fig. 2 Fig. 3 1. Kearns TP, Sayre GP - Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 1958; 60: 280. 2. Berenberg RA, Pellock JM, DiMauro S et al - Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann Neurol 1977; 1: 37-54. 3. Anan R, Nakagawa M, Miyata M et al - Cardiac involvement in mithocondrial diseases: a study on 17 patients with documented mithocondrial DNA defects. Circulation 1995; 91: 955-61. 4. Channer KS, Channer JL, Campbell MJ, Rees JR - Cardiomyopathy in the Kearns-Sayre syndrome. Br Heart J 1988; 59: 486-90. 5. Clark DS, Myerburg RJ, Morales AR, Befeler B, Hernandes FA, Gelband H - Heart block in Kearns-Sayre syndrome: electrophysiologic-pathologic correlation. Chest 1975; 68: 727-30. 6. Nitsch J, Zier S, Janssen KP et al - Indications for pacemaker therapy in ophthalmoplegia plus and Kearns-Sayre syndrome. Z Cardiol 1990; 79: 60-5. Email: abc@nib.unicamp.br

45. HONselect - Kearns Syndrome English kearns syndrome, Kearn-sayre Mitochondrial Cytopathy - kearns' syndrome- kearns-Sayer syndrome - kearns-sayre-Shy-Daroff syndrome - Cytopathy, Kearn http://www.hon.ch/HONselect/RareDiseases/C05.651.460.700.500.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Kearns Syndrome - Kearn-Sayre Mitochondrial Cytopathy - Kearns' Syndrome - Kearns-Sayer Syndrome - Kearns-Sayre-Shy-Daroff Syndrome - Cytopathy, Kearn-Sayre Mitochondrial - Kearn Sayre Mitochondrial Cytopathy Français: KEARNS ET SAYRE, SYNDROME Deutsch: Kearns-Syndrom - Kearns-Sayre-Shy-Daroff-Syndrom Español: SINDROME DE KEARNS Português: SINDROME DE KEARNS HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English No Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C05.651.460.700.500.html Last modified: Thu Jul 25 2002

46. Kearns Et Sayre, Syndrome : Sites Et Documents Francophones Translate this page kearns Et sayre, syndrome. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé kearns et sayre, syndrome kearns syndrome http://www.chu-rouen.fr/ssf/pathol/kearnsetsayresyndrome.html

Kearns Et Sayre, Syndrome Menu général CISMeF Arborescence(s) Kearns et Sayre, syndrome Kearns syndrome appareil cardiovasculaire, maladies appareil locomoteur, maladies métabolisme et nutrition, maladies oeil, maladies ... système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

47. Kearns Et Sayre, Syndrome : Arborescences MeSH Translate this page kearns Et sayre, syndrome. kearns et sayre, syndrome C05.651.460.700.500 pageCISMeF du motclef système nerveux, maladies C10 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navikearnsetsayresyndrome.html

Kearns Et Sayre, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies muscle, maladies myopathie mitochondriale ophtalmoplégie externe chronique progressive ... Kearns et Sayre, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

48. Kearns-Sayre Syndrome Clinical Resources kearnssayre syndrome Clinical Resources. Brain Disease (Keyword search) Listof documents. Miscellaneous kearns-sayre syndrome Clinical Resources http://baptistnashville-dl.slis.ua.edu/clinical/metabolism/inborn/mitochondrial/

Clinical Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Kearns-Sayre Syndrome Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 383: Muscular Dystrophies and Other Muscle Diseases: Table of contents Introduction: Access document Mitochondrial Myopathies: Access document mtDNA Disorders of Muscles: Access document Chapter 67: Diseases Caused by Genetic Defects of Mitochondria: Table of contents Introduction: Access document Structure and Function of Mitochondrial DNA: Access document Mitochondrial DNA Mutations: Access document Classic Mitochondrial Encephalomyopathy Phenotypes: Access document Organ System Manifestations of Mitochondrial Disease: Access document Role of Mitochondrial DNA Mutations in Prevalent Diseases: Access document The Merck Manual 17th Ed.-1999:

49. Provision Of Educationally-related Servi... Translate this page Titre/Title, Journal of Child Neurology. Article, kearns-sayre syndrome with a novelmitochondrial DNA deletion. Identification, Aug., no 8 15 2000 Pages 555-57. http://www.cidg.com/~marienf/k/i/n/m017180.htm

# Article : A0031581 Cote/Call Number Auteur/Author American Academy of Pediatrics. Committee on children with disabilities. Titre/Title Pediatrics Article Provision of educationally-related services for children and adolescents with chronic disease and disabling conditions. (RE9929) Identification Feb., No 2 105 2000 Pages: 448-51 Descripteurs/Descriptors Enfant malade chronique Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

50. Provision Of Related Services For Childr... Translate this page Cote/Call Number, WD205/Mitchondr. Auteur/Author, Titre/Title, Article,kearns-sayre, syndrome de. Identification, 2000 Pages 2 p. Descripteurs http://www.cidg.com/~marienf/k/i/n/m017179.htm

# Article : A0031580 Cote/Call Number Auteur/Author American Academy of Pediatrics. Committee on children with disabilities. Titre/Title Pediatrics Article Provision of related services for children with chronic disabilities. (RE9339) Identification Dec., o 6 92 1993 Pages: 879-81 Descripteurs/Descriptors Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

51. Retina International's Scientific Newsletter - Syndrome Loci kearnssayre syndrome, KS, 530000, mt, mitochondrial. http://www.retina-international.org/sci-news/syndrom.htm

Retina International's Scientific Newsletter Disease Database Syndromes Recent update from: 08.02.2001 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References ADRP and sensorineural deafness ad 9q34-ter D9S121, ASS Extreme variable age of onset First subjective problems in the third decade Slowly progressive Kearns-Sayre syndrome KS mt mitochondrial Lowe Oculocerebrorenal Syndrome OCRL xl Inborn error of inositol phosphate metabolism NARP syndrome ATPase 6 mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB-NDP- DXS426-cen Affects 1:100000 Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration ar Parents were at least first cousins Stickler syndrome STL ad MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., and Nussbaum,R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. 1992; Nature. 358: 239-242. Link to PudMed Goto Top Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., and et al. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.

52. Kearns-Sayre Syndrome The Official Parent's Sourcebook on kearnssayre syndrome (Chronic ProgressiveExternal Ophthalmoplegia and Myopathy; Chronic Progressive External http://www.icongrouponline.com/health/Kearns_Sayre.html

ICON Health Publications Official Health Sourcebooks The Official Parent's Sourcebook on KEARNS-SAYRE SYNDROME (Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; hereditary external ophthalmoplegia; Kearns-Sayre Disease; Mitochondrial Cytopathy, Kearn-Sayre Type; oculocraniosomatic neuromuscular disease; Oculocraniosomatic Syndrome (obsolete); Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy; ophthalmoplegia-plus; ragged red fiber disease) Revised and Updated for the Internet Age Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Kearns Sayre. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; hereditary external ophthalmoplegia; Kearns-Sayre Disease; Mitochondrial Cytopathy, Kearn-Sayre Type; oculocraniosomatic neuromuscular disease; Oculocraniosomatic Syndrome (obsolete); Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy; ophthalmoplegia-plus; ragged red fiber disease

53. ICON Health Publications -- Home Page kanner's autism, katayama disease, katayama fever, katayama fever, kearnssayre disease,kearns-sayre disease, kearns-sayre syndrome, keratitis, keratitis sicca http://www.icongrouponline.com/health/healthK.html

ICON Health Publications Official Health Sourcebooks Conditions or Treatments A B C D ... Z Search: KALA-AZAR KANNER SYNDROME KANNER'S AUTISM KATAYAMA DISEASE ... KATAYAMA FEVER related to SCHISTOSOMIASIS KATAYAMA FEVER related to SWIMMER'S ITCH KEARNS-SAYRE DISEASE related to KEARNS-SAYRE SYNDROME KEARNS-SAYRE DISEASE related to MITOCHONDRIAL MYOPATHIES KEARNS-SAYRE SYNDROME KERATITIS KERATITIS SICCA KERATOCONJUNCTIVITIS SICCA related to DRY EYE KERATOCONJUNCTIVITIS SICCA related to SJOGREN'S SYNDROME KERATOCONJUNCTIVITIS SICCA-XEROSTOMIA KERATOCONUS KERATOLYSIS KERATOPLASTY ... KETALAR related to CLUB DRUG DEPENDENCE KETALAR related to DISSOCIATIVE DRUG DEPENDENCE KETALAR related to KETAMINE DEPENDENCE KETALAR SV ABUSE related to CLUB DRUG DEPENDENCE KETALAR SV ABUSE related to DISSOCIATIVE DRUG DEPENDENCE KETALAR SV ABUSE related to KETAMINE DEPENDENCE KETALAR SV ADDICTION related to CLUB DRUG DEPENDENCE KETALAR SV ADDICTION related to DISSOCIATIVE DRUG DEPENDENCE KETALAR SV ADDICTION related to KETAMINE DEPENDENCE KETALAR SV DEPENDENCE related to CLUB DRUG DEPENDENCE KETALAR SV DEPENDENCE related to DISSOCIATIVE DRUG DEPENDENCE KETALAR SV DEPENDENCE related to KETAMINE DEPENDENCE KETAMINE related to CLUB DRUG DEPENDENCE KETAMINE related to DISSOCIATIVE DRUG DEPENDENCE KETAMINE related to KETAMINE DEPENDENCE KETAMINE ABUSE related to CLUB DRUG DEPENDENCE KETAMINE ABUSE related to DISSOCIATIVE DRUG DEPENDENCE KETAMINE ABUSE related to KETAMINE DEPENDENCE KETAMINE ADDICTION related to CLUB DRUG DEPENDENCE

54. Kears-Sayre Syndrome (www.whonamedit.com) Kearssayre syndrome syndrome characterised by unilateral or bilateral progressive Alsoknown as Bernard-Scholz syndrome,kearns' syndrome,kearns-Shy syndrome http://www.whonamedit.com/synd.cfm/1884.html

Home List categories Eponyms A-Z Biographies by country ... Contact Kears-Sayre syndrome Also known as: Bernard-Scholz syndrome Kearns' syndrome Kearns-Shy 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 Thomas P. Kearns George P. Sayre R. O. Scholz ... George Milton Shy Description: Syndrome characterised by unilateral or bilateral progressive weakness of muscles of eyelids, up to severe ptosis, pigmentary degeneration of retina, cardiomegaly/cardiomyopathy, and heart failure. Some cases present cerebellar ataxia, progressive paralysis, sensory deafness for high tones, spasticity, mental deficiency, and short stature. Prevalent in females. Onset before 20 years of age. The syndrome is sometimes classified into an infantile and a juvenile form. Both sexes affected. Aetiology unknown. Sporadic and familial forms known. Autosomal dominant inheritance has been suggested in some cases. First described jointly by Kearns and Sayre in 1958. The combination of ophthalmoplegia and pigment degeneration had been described earlier by Barnard and Scholz in 1944, Chamlin and Billet in 1950, Erdbrink 1957, etc. In 1946 the British neurologist Paul Sandifer reported ophthalmoplegia and cardiomyopathy.

55. Endocrine Surgeon What is kearnssayre syndrome? This is a very rare syndrome and is alsoknown as oculocraniosomatic disease. The main characteristics http://www.endocrinesurgeon.co.uk/pancreas/pancreas11-4.html

Summaries of latest endocrine news......Up-to-date information at your fingertips...... Click on arrow to select.... Introduction to Endocrinology Thyroid Parathyroids Adrenals Pancreas Pituitary Multiple Endocrine Neoplasia Carcinoid tumours Erectile dysfunction Pineal Gland and Melatonin Osteoporosis Endocrine Anaesthetics A to Z of diagnostic tests Miscellaneous What is Kearns-Sayre syndrome? This is a very rare syndrome and is also known as oculocraniosomatic disease. The main characteristics of the syndrome are ophthalmoplegia and several endocrine abnormalities. One of the main endocrine abnormalities is diabetes mellitus as well as hypoparathyroidism and hypopituitarism. The cause and pathogenesis of the syndrome are not fully understood, but it is thought that there may be an important autoimmune component.

56. Endocrine Surgeon K. kearnssayre syndrome. http://www.endocrinesurgeon.co.uk/conditionindex/k.html

Summaries of latest endocrine news......Up-to-date information at your fingertips...... Click on arrow to select.... Introduction to Endocrinology Thyroid Parathyroids Adrenals Pancreas Pituitary Multiple Endocrine Neoplasia Carcinoid tumours Erectile dysfunction Pineal Gland and Melatonin Osteoporosis Endocrine Anaesthetics A to Z of diagnostic tests Miscellaneous K kearns-sayre syndrome

57. A3243G - Abstract - MELAS - And Kearns-Sayre-type Co-mutation [corrected] With M A 35year-old woman with features of kearns-sayre syndrome consisting of progressiveptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary http://www.a3243g.com/abstract_pm_8651648.asp

A G mtDNA Advertisement Above An A to G point mutation at position 3243 on the Mitochondrial DNA causes MELAS and MIDD Home Information Abstracts ... What's New Abstract Publication: Ann Neurol 1996 Jun;39(6):761-6 MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ohno K, Yamamoto M, Engel AG, Harper CM, Roberts LR, Tan GH, Fatourechi V. Department of Neurology and Muscle Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA. Original Abstract Date Page Updated: 14 September 2002 Email this page to a friend. Feedback on this page. We subscribe to the HONcode principles. Verify here Terms Privacy Funding

58. Ophthalmoplegia kearnssayre syndrome causes ophthalmoplegia along with loss of pigmentin the retina, the light-sensitive membrane lining the eye. http://www.healthatoz.com/healthatoz/Atoz/ency/ophthalmoplegia.html

Encyclopedia Index O Home Encyclopedia Encyclopedia Index O Ophthalmoplegia Definition Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. The condition can be caused by any of several neurologic disorders. It may be myopathic, meaning that the muscles controlling eye movement are directly involved, or neurogenic, meaning that the nerve pathways controlling eye muscles are affected. Diseases associated with ophthalmoplegia are ocular myopathy, which affects muscles, and internuclear ophthalmoplegia, a disorder caused by multiple sclerosis , a disease which affects nerves. Description Because the eyes do not move together in ophthalmoplegia, patients may complain of double vision. Double vision is especially troublesome if the ophthalmoplegia comes on suddenly or affects each eye differently. Because ophthalmoplegia is caused by another, underlying disease, it is often associated with other neurologic symptoms, including limb weakness, lack of coordination, and numbness. Causes and symptoms Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive external ophthalmoplegia. Because it is so often associated with diseases affecting many levels of the neurologic system, it is often referred to as "ophthalmoplegia plus." The main feature is progressive limitation of eye movements, usually with drooping of the eyelids (

59. David R. Hardten, MD - Eye Conditions - Kearns-Sayre Syndrome David R. Hardten, MD. Home Conditions kearnssayre syndrome, http://drhardten.eyemdlink.com/Condition.asp?ConditionID=259

60. Marguerite McDonald, MD - Eye Conditions - Kearns-Sayre Syndrome Marguerite McDonald, MD. Home Conditions kearnssayre syndrome, http://drmcdonald.eyemdlink.com/Condition.asp?ConditionID=259

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