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Mitochondrial Disorders Examples of Mitochondrial Disorders. KearnsSayre syndrome (KSS),chronic progressive external ophthalmoplegia. Various forms. May http://prl.humc.edu/obgyn/public/genetics/Mito.htm
Extractions: Mitochondrial Disorders The mitochondria are energy producing intracellular organelles thought to have arisen by endosymbiosis of bacteria. The DNA of the mitochondria (mtDNA) is circular, and while mitochondria reproduce by binary fission. mtDNA replication is controlled by the eukaryotic genome . Mitochondrial disorders are transmitted through the maternal line and no affected males transmit the disease. The mother transmits her mtDNA through the ovum, but the sperm do not. The mitochondria from the mom may all be like (homoplasmy) or a mixture of normal and abnormal mtDNA (heteroplasmy). The relative proportion of normal to abnormal mtDNA determines the degree of expression for the mutation. Clinical features associated with mtDNA mutation syndromes include: Laboratory findings may include: Lactic acidosis, normal or slightly elevated CK levels, and elevated CSF protein.
/ in the quadriceps muscle during bicycle ergometer exercise in normal controls and3 patients with chronic progressive external ophthalmoplegia (CPEO) and one http://lib1.nippon-foundation.or.jp/1997/0313/contents/221.htm
Mitochondrial Information defect in Complex IV of the respiratory chain Complex V Deficiency ATP SynthaseDeficiency CPEO - chronic progressive external ophthalmoplegia Syndrome CPT I http://www.emdn-mitonet.co.uk/info.htm
Malattie Rare E Genetiche Lettera "O" Translate this page and cardiomyopathy/oculocraniosomatic syndrome/ophthalmoplegia-plus syndrome/mitochondrialcytopathy//chronic progressive external ophthalmoplegia with myopathy http://utenti.lycos.it/fmfpc/O.htm
Extractions: Dal 22 Marzo 2003 il server Lycos, che ospita le pagine FMFPC, subirà un *fermo tecnico*. Le pagine resteranno accessibili ma non verranno aggiornate per circa una settimana. - Tutti i servizi di FMFPC continueranno a funzionare. - È ora possibile accedere al sito anche attraverso l'indirizzo alternativo di FMFPC (sito mirror) all'URL http://digilander.libero.it/fmfpc/portale.htm
Glossary - C cc, with correction (cum correctico), CPC, central posterior curve.CC, chief complaint, CPEO, chronic progressive external ophthalmoplegia. http://www.site4sight.org.uk/Glossary/glos_c.htm
Extractions: You are here : The O.R.N. Home Search This Site Front Page A ... Z C c with (curn) CMV cytomegalovirus C 1 cyclopentolate (Cyclogyl) i% eyedrops CN cranial nerve C centigrade 2nd cranial nerve (optic) C cranial nerve 3rd cranial nerve (oculomotor) c cycloplegic 4th cranial nerve (trochlear) Ca calcium 5th cranial nerve (trigeminal) CA carcinoma 6th cranial nerve (abducens) CA cancer, corneal abrasion CNAG chronic narrow angle glaucoma CAB cellulose acetate butyrate CNDO congenital nasolacrimal duct obstruction CACG chronic angle closure glaucoma CNS central nervous system CAD coronary artery disease CNVM choroidal neovascular membrane CAG closed angle glaucoma COAD chronic obstructtve airway disease CAI carbonic anhydrase inhibitor COAG chronic open angle glaucoma cat.
Extractions: Synonyms, Key Words, and Related Terms: KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Ewa Posner, MD , Specialist Registrar in Paediatrics, Department of Pediatric Neurology, Newcastle General Hospital, UK Coauthored by Anna Basu, MA, BMBCh, MRCPCH , Staff Physician, Department of Pediatrics, Newcastle General Hospital, Newcastle, United Kingdom; DM Turnbull, MBBS, PhD, MD , Professor, Department of Neurology, University of Newcastle Upon Tyne, UK; Honorary Consultant Neurologist, Royal Victoria Infirmary, Newcastle Upon Tyne, UK Ewa Posner, MD, is a member of the following medical societies: Royal College of Paediatrics and Child Health Edited by Erawati Bawle, MD, FAAP, FACMG
Extractions: Vol. 10: Winter, 1994 Traditional inheritance views the nucleus as the central repository of genetic information and meiosis as the principal determinant of the segregation of traits in families. However, the existence of another genome, the mitochondrial genome, in all cells introduces another twist of biology leading to nontraditional inheritance. Mitochondria are organelles that provide much of the energy cells use for the work they do. Most biologists now believe that these structures evolved from microorganisms that established symbiotic relationships with the ancestors of animal cells very early in the history of life on this planet. Selection for metabolic advantages gained through symbiosis explains how it has come to be that mitochondria contain their own DNA that codes for 13 of their proteins along with ribosomal and transfer RNA that specifically help express mitochondrial series. As with any form of DNA, mitochondrial DNA (mtDNA) sequences are susceptible to mutation In fact, there is evidence that mitochondrial sequences may mutate at rates 3 to 5 times greater than nuclear sequences. The consequences of mitochondrial mutations, however, may be very different from those that occur in nuclear DNA. First, each cell contains about 100,000 mitochondria, each of which has 2 to 10 copies of its genome. The effect a mutation in mtDNA will have on a cell's function will therefore depend on the number of mutant organelles in a cell compared to the number of normal, or "wild type", present. In this respect, each cell is analogous to an organism in which somatic mutation can produce mosaicism (see above). Here the mixture of genotypes is termed heteroplasmy.
Rare Diseases List - Office Of Rare Diseases Mitochondrial cytopathy; chronic progressive external ophthalmoplegia withmyopathy. Ophthalmoplegia, progressive external, with raggedred fibers. http://ord.aspensys.com/diseaseinfo.asp?ID=6817
Extractions: Table 3. Click on the above tables to view Clinical History A 48-year-old man presented with a three year history of sensory complaints and cognitive decline. Short term memory loss resulted in a job loss. He had become emotionally unstable, had word finding difficulties and got lost on unfamiliar streets. He no longer could pay bills or make coffee. He had daytime drowsiness, but no excessive snoring. At a videotaped family event four years earlier he seemed neurologically intact. He had a eight year history of diabetes mellitus, hearing loss and impotence. He had completed high school and obtained a GED. He was the only child of a Cherokee Indian man about whom little was known. His mother had several healthy, now adult children with another man. She suffered from migraine. There is no family history of seizures, dementia, hearing loss, external ophthalmoplegia, myopathy, visual problems, short stature or diabetes. The patient's 24 year old son, 28 year old daughter and two grandchildren are healthy. General and Neurological Examinations He was 162 cm tall, wore hearing aids and looked older than his stated age. He was disoriented to date. His affect was restricted, dysphoric and irritable. There were no hallucinations. His IQ was 79. Memory, reasoning, attention and language were moderately to severely impaired. There was cerebellar ataxia and stocking-like distribution sensory impairment, but no other cranial nerve, visual or motor abnormalities or involuntary movements.
Extractions: Brief Outline of Exams Exam Results Revision Courses Application packs: Calendar, Fees, Submission procedure Part 1 Membership Exam Part 2 Membership Exam Part 3 Membership Exam ... Fellowship (FRCOphth) exit assessment Information for candidates In response to considerable discussion the Examinations Committee of the College has decided to update the format of the Part 3 MRCOphth Examination. A new Part III subcommittee has been formed to plan the examination and the first examination adopting the new format will be conducted in Dundee in September 2003. Minor modifications to the format below may be made and further information will be available in due course. Content of the Examination This is the same as the present Part 3 i.e. Medical and Surgical Ophthalmology and Ophthalmic Pathology and Microbiology. In achieving this end the examination will assess the relevant knowledge, understanding and skills as follows.
Extractions: Departments of Laboratory Medicine and Child Neurology, National Center Hospital for Nervous, Mental and Muscular Disorders, NCNP, Kodaira, Tokyo 187, Japan The mitochondria is an intracellular organelle for supplying energy to the living cell. Since the muscle and central nervous system depend on larger amounts of energy than other organs, mitochondrial dysfunction frequently results in diseases in these organs, as the term "mitochondrial encephalomyopathies" indicates. In this communication, we would like to discuss difficulties in genetic counseling of mitochondrial diseases focusing on MELAS, one of the most common of the maternally inherited mitochondrial diseases (1). 1. Mitochondrial (mt) DNA
BAM 10 (3) Metabolic and Muscle Adaptation to Aerobic Training in Patients Affectedby chronic progressive external ophthalmoplegia. Gabriele http://www.bio.unipd.it/~bam/bam10-3.htm
Home Test/Rare Test Index Equipment/Services Chronic myelogenous leukemia profile. chronic progressive external ophthalmoplegia(CPEO). Chylomicron screen, body fluid. Citric acid (citrate), urine. http://www.clr-online.com/cgi-bin/2002/searchtestalpha.asp?Alpha=c
Extractions: Symptoms Chapters: A Collection of High Quality Online Resources for Health Professionals Adie's tonic pupil Affective Disorders Ageusia Agnosia Akathisia Alexia, Agraphia Amblyopia Amnesia/Memory Impairment Introduction to Memory - Wayne University What we need to know about age related memory loss - BMJ, June