81. Retina Australia Announcement of an International Refsum disease Workshop It is our pleasureto invite you to attend the first Refsum disease (RD) international workshop http://www.retinaaustralia.com.au/International Congress 2005.htm

back Announcement of an International Refsum Disease Workshop April 1 – 2, 2005 in Berlin It is our pleasure to invite you to attend the first Refsum Disease (RD) international workshop, organized by the Refsum Disease Support Network (Refsums Discussion list) in cooperation with Retina International and the Rare Retinal Disease (RRD) project, Charité Virchow Eye Clinic, Berlin, Germany. This forum will be held in Berlin, Germany from April 1 – 2, 2005 and will bring together international researchers, medical professionals, family members and patients affected by Refsum Disease. This workshop aims to: provide opportunity for exchange of ideas, experience and dissemination of information among Refsum Disease patients and their families worldwide present results of recent research and efficacy of medical care, with practical relevance for Refsum Disease patients and families explore options for Refsum Disease patient participation in on-going EU-funded research projects encourage concerted actions for generation and availability of improved data on treatment and prevention in Refsum Disease Workshop format: Plenary session Concurrent workshops for patients and clinicians/researchers Closing plenary session Preliminary workshop topics (subject to change): RRD project in Germany and evidence in treatment and prevention of rare retinal diseases Refsum Disease - Ophthalmologic manifestations Refsum Disease - Cardiac manifestations Refsum Disease - Neurological manifestations

82. Refsum’s Disease - Patient UK Refsum’s disease Patient UK. A directory of UK health, disease, illness andrelated medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001285/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Refsum’s Disease Refsum’s disease is an inherited disorder of fatty acid oxidation, characterised by phytanic acid accumulation in the blood and tissues causing a motor and sensory neuropathy, first described by Sigvald Refsum in 1945. He observed it in five members of 2 unrelated Norwegian families, with consanguineous parents. Aetiology Classical Refsum’s disease is one of a group of disorders of the peroxisome (an organelle present in most tissues). There is a single enzyme deficiency, phytanol coenzyme A hydroxylase, the gene for which (PAHX) is found on chromosome 10 (autosomal recessive). Both point mutations and deletions have been described on PAHX associated with Refsum’s disease. There is defective alpha oxidation of phytanic acid, a branched chain fatty acid present in a wide range of foodstuffs including dairy produce, meat and fish and there is toxic accumulation of phytanic acid in blood, fat and neurons. Normally phytanic acid levels are virtually undetectable in plasma. However patients with Refsum’s disease have extremely high levels with phytanic acid accounting for 5-30% of their total fatty acids. Presentation The 3 diagnostic features of Refsum’s disease are Retinitis pigmentosa peripheral polyneuropathy and cerebellar ataxia Infants generally seem normal at birth. Symptoms begin by late childhood or adolescence, although there are reports of presentation as late as 50 years of age. The disease is usually progressive, with periods of remission, although acute and sub-acute presentations have been reported, associated with rapid

83. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta Search The Official Parent s Sourcebook on Refsum disease A Revised and Updated Refsum disease The clinical and biochemical presentation of this http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Cholesterol and Other Fats : Refsum's Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Search Google: Refsum's News Books Links [ More news about Refsum's Amazon.com's Price: Prices subject to change. Gale Encyclopedia of Medicine : Lipidoses by: Altha Roberts Edgren Amazon.com's Price: Prices subject to change. The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by: Icon Health Publications September 01, 2002 Amazon.com's Price: Prices subject to change. Homocysteine Metabolism: From Basic Science to Clinical Medicine December 15, 1997 [ More books about Refsum's Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes.

84. Health/Conditions And Diseases/Nutrition And Metabolism Disorders/Cholesterol An Refsum disease The clinical and biochemical presentation of this disease, Refsum disease Information sheet on this disease as to what it is, http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Nutrition_and

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. url: www.peroxisome.org/Scientist/Biochemistry/disorder... Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. url: www.ninds.nih.gov/health_and_medical/disorders/ref... Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. url: www.srpf.a.se/forsk/refsum.html Yahoo! Group - Refsum Disease Support Network E-mail based discussion group for people with this disorder and their families for sharing experiences, coping strategies and dietary tips. url: groups.yahoo.com/group/refsums_discussion/

85. DermIS / Main Menu / PeDOIA / Table Of Contents / 2 Genodermatoses / 2.2 Uncla disease, Refsum s, Hered motor/sens neuropathy IV, Hereditary motor and sensoryneuropathy type IV, Hereditary sensorymotor neuropathy, type 4, http://dermis.multimedica.de/doia/diagnose.asp?zugr=p&lang=e&diagnr=757106&topic

86. Blind Citizens News: December 2004 FIRST INTERNATIONAL REFSUM disease WORKSHOP. APRIL 1 2, 2005 BERLIN. The firstRefsum disease (RD) international workshop, organized by the Refsum http://www.bca.org.au/news0412.htm

BLIND CITIZENS NEWS December 2004 In This Issue Contact and Other Information Urgent Notice Editorial Letters to the Editor ... Back to top of Page Contact and other Information Blind Citizens Australia Contact Details PO Box 24 SUNSHINE VICTORIA 3020 13 Barrett Street KENSINGTON VICTORIA 3031 Telephone 03 9372 6400 Toll Free 1800 033 660 Facsimile 03 9372 6466 TTY 03 9376 9275 bca@bca.org.au www.bca.org.au Published by Blind Citizens Australia ABN 90-006-985-226 Edited by Nadia Mattiazzo Our mission is to achieve equity and equality by our empowerment, by promoting positive community attitudes, and by striving for high quality and accessible services which meet our needs. Large Print ISSN 1441-449X Braille ISSN 1441-5658 Cassette ISSN 1441-564X Blind Citizens News is distributed in Large Print, Braille and Audio. Electronic copies in text format are available from our Web page, on Disk or by Email. To change your format, please contact Blind Citizens Australia. Other Publications SoundAbout Audio Magazines Blind Citizens Australia Annual Report Project and Research Reports Accessible E-Commerce in Australia Community Development for Blind Women Everybody's Business Horizons Radio Program (see Tune in and Keep up to Date, in this issue)

87. Rarelink.net - Diagnoselisten Refsum Disease (Heredopathia Du er her Hjem Diagnoselisten Refsum disease (Heredopathia atacticapolyneuritiformis) Refsum disease (Heredopathia atactica polyneuritiformis) http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=233&synonymId=419

88. Tidsskriftet - Artikkel Steinberg D. Refsum disease. I Scriver CR, Beaudet AL, Sly WS, Valle D, red . Try K, Stokke O. Biochemical and dietary studies in Refsum s disease http://www.tidsskriftet.no/pls/lts/PA_LT.VisSeksjon?vp_SEKS_ID=257402

89. Refsumin Tauti, Infantiili Muoto - Kehitysvammahuollon Tietopankki REFSUM disease, INFANTILE FORM, OMIM, Victor A. McKusick et al. PEROXISOME BIOGENESISFACTOR 1; PEX1, OMIM, Victor A. McKusick http://www.saunalahti.fi/kup/syndroma/refsum_i.htm

Kehitysvammahuollon tietopankki Lihasten surkastuminen, silmänpohjan rappeuma, ataksia, kuulon alenema, kehitysvammaisuus, osteoporoosi Refsumin tauti, infantiili muoto Infantiili fytaanihapon kertymäsairaus IRD Refsumin taudin syynä on fytaanihapon kertyminen elimistöön. Lihasten surkastumisen lisäksi oireina ovat silmänpohjan rappeuma (väriainemuutokset), tasapainohäiriöt, liikkeiden hapuilevuus ( ataksia ) ja kuulon aleneminen. Infantiilissa (varhaislapsuudessa puhkeava) muodossa esiintyy myös kehitysvammaisuutta , refleksien heikkenemistä, ääreishermoston sairautta , lievää kasvojen epämuodostumista (litteys), litteänenäisyyttä, maksan suurentumista, ripulia, luukatoa (osteoporoosi) ja jaksottaista verenvuotoa. Muina oireita saattavat olla kouristuskohtaukset. aivokammioiden laajentuminen, lyhytkokoisuus, etäiset silmät ( hypertelorismi ), pieni alaleuka, silmävärve ( nystagmus ) ja autistiset käyttäytymispiirteet Oireyhtymän aiheuttavia geenivirheitä on löydetty 8. ja 7. kromosomin alueilta 8q21.1 ja 7q21-q22 (PEX1- ja PEX2- eli PXM3-geenit). Oireisto on peittyvästi periytyvä . Se on perin harvinainen. Lisätietoja: REFSUM DISEASE, INFANTILE FORM, OMIM, Victor A. McKusick et al.

90. Chelsea And Westminster Healthcare NHS Trust Hypertension; Refsum’s disease; Severe Obesity service A Refsum’s clinicis held monthly on a Tuesday afternoon. Refsum’s disease. 1/fortnight http://www.chelwest.nhs.uk/services_files/medicine/diab_endo.htm

A to Z list of services Medicine Surgery Women and Children ... MEDICINE Location: Chelsea and Westminster Hospital The Beta Cell Diabetes Centre - 2nd Floor, Lift bank B Antenatal Clinic - Ground Floor, Lift bank C Outpatients 3, 2nd Floor, Lift bank B South Westminster Clinic(SWC) 82 Vincent Square, SW1 Appointments Phone: Fax: Email: Cancer: cancer.referrals@chelwest.nhs.uk GPs: gp.referrals@chelwest.nhs.uk Services Diabetes Endocrinology Hypertension Severe Obesity service This service provides extensive in patient and out patient services at the Chelsea and Westminster Hospital and the South Westminster Centre for Health using a multi disciplinary approach that covers all aspects of diabetic care for adults and children, with a diabetic nursing team available for advice both in hospital and with in the community. The Beta Cell Diabetes Centre uses a multidisciplinary team approach to provide a range of clinics and services to patients, general practice staff and ward staff. A hypertension Cardiovascular risk clinic, which involves a dedicated specialist Nurse and Dietitian, takes place on

91. Pheresis, 71 Refsum’s disease. Acute GuillainBarre syndrome. Chronic inflammatory demyelinatingpolyneuropathy (CIDP). Eaton-Lambert myasthenic syndrome http://www.bcbsma.com/common/en_US/hresource/071.jsp

92. Pheresis, 71 Refsum’s disease. Acute GuillainBarre syndrome. Chronic inflammatory demyelinatingpolyneuropathy (CIDP) Refsum’s disease, Investigational, Class III http://www.bcbsma.com/common/en_US/medical_policies/071.htm

Policy 71, Posted: 8/22/05 Pheresis Plasmapheresis (Plasma Exchange) When services are covered We cover plasmapheresis (plasma exchange) or therapeutic apheresis for the following indications: Blood disorders Cold agglutinin disease HELLP Syndrome of pregnancy Post-transfusion purpura ABO-incompatible bone marrow transplant Essential thrombocythemia, for example, for thrombotic or bleeding episodes or when platelet count exceed 1,000,000/mm Leukapheresis in the treatment of leukemia Pure Red Cell Aplasia unresponsive to immunosuppressives Myeloma kidney AIDS-related ITP Immune Thrombocytopenic Purpura (ITP) Cryoglobulinemia Thrombotic thrombocytopenic purpura or hemolytic uremic syndrome. Rheumatologic disorders Rheumatoid vasculitis Severe scleroderma Polymyositis (cerebritis, myocarditis, nephritis, etc.) in patients unresponsive to conventional therapy SLE systemic lupus erythematosus ("lupus"), as a treatment of last resort for Blue Care 65 and Medicare PPO Blue members only in accordance with CMS guidelines. The AMA considers this use investigational.

93. Webhealth | Health Information On The Web Educating professionals and others about this group of diseases. In doing this we Leukodystrophy refsums Leukodystrophy - Zellweger Lipodystrophy http://www.webhealth.co.uk/support_groups/climb_metabolic_diseases_in_children.a

Free Radicals Test A - Z of Health Research Therapy Overviews ... Support Groups Members Area Update your details Lost password Discussion groups Practitioner Search ... Join Our Directories METABOLIC DISEASES IN CHILDREN - Climb About Climb We are a national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Our aim is: "To ensure the best possible quality of life for children and families affected by metabolic disease and alleviate their suffering with the ultimate aim of prevention and cure." We do this by Funding research and facilitating medical treatment Providing information, counselling and advice for families and professionals. Supporting families through grants to help meet equipment and other costs. Educating professionals and others about this group of diseases. In doing this we: Affirm the right of families to access services of a consistently high quality.

94. Untitled Page ·syndromic RP Usher, Kearns, Friedreich, LaurenceMoon-Bardet-Biedl, Refsumsdisease, neurological degenerative and paediatric metabolic entities with http://www.thebalticeye.com/ZURICH.html

Making diagnostic use of electrical events in the retina Scandinavian researchers have contributed considerably to the analysis and clinical introduction of electro-retinography referred to in all standard reference books [1, 2]. Here, (in the frame of this short article) the generation of the electrical activity of the vertebrate retina can only be briefly summarized. The activation of photoreceptors by light elicits phototransduction and major amplification enabling the propagation of the signals to following neurons. Second-order neurons, the ON- and OFF- bipolar cells as well as laterally interacting horizontal cells modulate visual information to be transmitted to third order neurons, the ganglion cells and the signal-modulating amacrine cells. The axons of the ganglion cells form the optic nerve to carry spike-coded visual information to the lateral geniculate and to the visual cortex. Retinal mechanisms such as amplification, feedback, and network adaptation in the inner retina as well as anatomical convergence and divergence of neurons enable complex modulation of visual information within the retina. Standardized ERG recording It is the diagnostic value of the ERG that makes it worthwhile to record and analyze this intrinsically complex field potential in a standardized manner. Conditions necessary for reproducible adaptation and recording, normative rod-driven, cone-driven and mixed ERG signals are recommended by the International Society for Clinical Electrophysiology of Vision (I.S.C.E.V.) [8]

95. MUSC Publications @ MUSC Library Aubourg P, Kremser K, Roland MO, Rocchiccioli F, Singh I. Pseudoinfantile refsumsdisease catalasedeficient peroxisomal particles with partial deficiency http://www.library.musc.edu/about_lib/facpub/facpub.php?year=1993

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