Geometry.Net - Health_Conditions: Refsums Disease


Home - Health_Conditions - Refsums Disease

e99.com Bookstore

Images

Newsgroups

81-95 of 95 Back | 1 | 2 | 3 | 4 | 5

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Refsums Disease: more books (15)

The Official Parent's Sourcebook on Infantile Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-12
Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, 1985-06
Refsum disease: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Oren, MD, PhD Traub, 2005
Infantile refsum disease: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Oren, MD, PhD Traub, 2005
Refsum disease: An entry from Thomson Gale's Gale Encyclopedia of Neurological Disorders by Bryan, PhD Cobb, 2005
Biochemical and dietary studies in Refsum's disease (Heredopathia atactica polyneuritiformis) by Kenneth Try, 1969
Heredopathia Atactica Polyneuritiformis: A Familial Syndrome not hitherto described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System by Sigvald Refsum, 1946-01-01
COLLABORATIVE STUDY OF EPIDEMIOLOGICAL FACTORS IN CEREBROVASCULAR DISEASE : CODING GUIDE by Ludo (van), with A.B. Baker, G. Mottura, C. Poser, S. Refsum and E. Rutishauser Bogaert, 1959
Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
Lipidoses: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Altha Edgren, 2006
Homocysteine Metabolism: From Basic Science to Clinical Medicine
Peripheral Neuropathies: International Conference Proceedings (International congress series)
Myocardial Ischemia and Protection

lists with details

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

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

Extractions: 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. Refsums 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 Refsums 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 Refsums 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 Refsums disease have extremely high levels with phytanic acid accounting for 5-30% of their total fatty acids. Presentation The 3 diagnostic features of Refsums 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
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

Extractions: 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.
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
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
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

Extractions: 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. SoundAbout Audio Magazines Blind Citizens Australia Annual Report Project and Research Reports
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
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
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

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

Extractions: 82 Vincent Square, SW1 Appointments Phone: Fax: Email: Cancer: cancer.referrals@chelwest.nhs.uk GPs: gp.referrals@chelwest.nhs.uk 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
Pheresis, 71
Refsums disease. Acute GuillainBarre syndrome. Chronic inflammatory demyelinatingpolyneuropathy (CIDP). Eaton-Lambert myasthenic syndrome
http://www.bcbsma.com/common/en_US/hresource/071.jsp
Pheresis, 71
Refsums disease. Acute GuillainBarre syndrome. Chronic inflammatory demyelinatingpolyneuropathy (CIDP) Refsums disease, Investigational, Class III
http://www.bcbsma.com/common/en_US/medical_policies/071.htm

Extractions: 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 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.
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

Extractions: 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 In doing this we: Affirm the right of families to access services of a consistently high quality.
Untitled Page
·syndromic RP Usher, Kearns, Friedreich, LaurenceMoon-Bardet-Biedl, Refsumsdisease, neurological degenerative and paediatric metabolic entities with
http://www.thebalticeye.com/ZURICH.html

Extractions: 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]
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

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

81-95 of 95 Back | 1 | 2 | 3 | 4 | 5