Mediscan: Search Results Your search refsums disease produced 8 results Results 1 to 8, View largerimage. 014319 REFSUMS SYNDROME RETINITIS PIGMENTOSA. http://www.mediscan.co.uk/cfm/resultssearch.cfm?box=refsums disease&mediatype=Im
New Beacon, December 1995, 79(937) refsums disease is a very rare genetic disorder, of which the main symptoms People with refsums disease have an enzyme `missing , which means that they http://www.rnib.org.uk/xpedio/groups/public/documents/visugate/public_nbdec95.hc
Extractions: contents Print Email Summary: The leading monthly magazine on issues concerning people with sight problems New Beacon December 1995, 79(937) Editor: Ann Lee Have a Dickensian Christmas! Paul Scofield plays old Martin Chuzzlewit in the popular BBC Television serial, now available on video with audio description. See Our report by Monique Raffray looks at the development of audio description in various European countries. In his first article, Richard Cox, Hampshire's Adviser on Visual Impairment, used a fictional character with failing sight to question the general manner in which sight loss is dealt with by statutory authorities. He likened the process of medical care without social support to a descent down a slippery snake, to the `last resort' of registration, before help might be offered. This month he describes some of the `ladders' that Hampshire have developed. Providing ladders early on We began by accepting the proposition that early identification The Mrs Smith in my previous article didn't give up her home because she wasn't fit or mentally alert. She did so because no one saw her simple needs for what they were: needs such as good lighting to cook safely by, a decent LVA service so she could still read her own post, and some basic mobility training so she could get to the shops without being run over. And she also needed a bit of understanding about how she felt when she was registered and discharged without the treatment she'd falsely hoped for.
Favorite Links Their son Hunter has Krabbes Disease another Leukodystrophy. Alexander s Disease,Krabbes Disease, Metachromatic Leukodystrophy and refsums disease. http://www.dylanfreeman.20m.com/favorite_links.html
Extractions: PDF Version Search Send-to-Friend Health Library Home ... Conditions InBrief by Debra Wood, RN Definition Causes Risk Factors ... Organizations Retinitis pigmentosa (RP) is a group of inherited eye diseases that often leads to severe visual problems. The retina is a layer of light-sensitive tissue that lines the back of the eye. It converts visual images that we see into nerve impulses that it sends to the brain. Some types of RP are associated with other inherited conditions. This disorder is named for the irregular clumps of black pigment that usually occur in the retina with this disease. Normal Anatomy of the Eye www.nucleusinc.com Many types of RP are caused by a genetic mutation. Some cases occur sporadically. Vision loss occurs when light-sensitive cells in the retina gradually break down. There are two types of cells in the retina: In most forms of retinitis pigmentosa, the rods die. Vision becomes impaired at night. The ability to see things off to the side while looking ahead also decreases. In some forms of RP, the cones are lost. In those cases, central and color vision suffers. Vision loss usually progresses over a period of many years.
1300 Ziekten refsums disease (Infantile) Rhizomelic Chondropdysplasia Punctata RileyDaySyndrome Sandhoff s Disease y Schwachman-Diamond S ndrome http://boks.be/nl_site/html/1300dis.htm
Rebecca S Story She is labeled with Infantile refsums disease. This very rare syndrome is typicallydeaf/blind. She is diagnosed with RP and moderate hearing loss in both http://www.geocities.com/Heartland/Meadows/5939/RebeccaWeaver.HTML
Extractions: Click the color button to change background color. Rebecca, is 5 1/2 years old, she will be 6 in August. She is labeled with Infantile Refsums Disease. This very rare syndrome is typically deaf/blind. She is diagnosed with RP and moderate hearing loss in both ears. She wears hearing aids in both ears and tests at conversational level. She attends the WPSBC (Western Pennsylvania School for Blind Children) in Pittsburgh, she is enrolled in Kindergarten. They are working mildly on sign language, but her vocal abilities have greatly improved over this last year. She has about 30 + words in her list, which is a major improvement since I first joined the listserv a year ago. She has recently been diagnosed with seizures, so she is now wearing a safety helmet (bright pink). She is very mobile, runs as well as walks everywhere. She especially like the outdoors. She's happy just to be out on the porch in the rain, as long as she is out. She refuses to wear gloves, so the snow weather/play is non-existant. As soon as her hands hit the snow, she is ready to come in. She has a younger sister who she terrorizes. We have behavior problems with her, so after alot of searching (about 3 years) I have finally found EPSDT services that start this coming week. This will be very interesting, and helpful. Written in March 1998 by Jean Weaver
UNITED LEUKODYSTROPHY FOUNDATION _LEU16 Information on refsums disease$2.00. _LEU17 Information on PeroxisomalDiseases-$3.00. _LEU18 Information on Lysosomal Storage Diseases-$2.00 http://www.ulf.org/ulf/ulfres/
Extractions: The ULF maintains a collection of reprints, booklets, and videotapes available on a variety of topics as listed below. Videotapes are sessions from past ULF National Conferences and may be either purchased or rented by our members, or purchased by the general public. Literature is limited to one of each item. Please email us and request an order form which contains a complete listing of the literature available. Send the completed form to the above address along with your payment and your address information. Please allow 2 weeks for delivery. Payment accepted by money order, check, Master Card or Visa. Bone Marrow Transplant Information _BMT01 Bone Marrow Donor Information-$1.00 _BMT02 Patient Care/Complications-$1.00 _BMT03 Adrenoleukodystrophy-$2.00 _BMT04 Krabbes Disease-$2.00
Extractions: An incomplete Requisition Form will result in delay of testing and result reporting. Please enclose a completed Requisition Form with the submission of specimen(s). Instructions for Shipping Complete the Requisition Form Verify that the appropriate specimen requirements have been met (sample type, volume, collection tube type).
Sciatic Nerve Enlargement The list of causes of hypertrophied or swollen nerves includes hereditary suchas CMT, refsums disease, familial amyloid. There are several genetic subtypes http://www.medhelp.org/forums/neuro/messages/33746.html
Extractions: Some specialists thought it could be Dejerin-Sottas desease. We did gerenal blood test(not specific for the DS)and spine fluid examination which both didnt show any abnormal.We even had Darren done the Pet-CT scan and doctors still couldnt find out what exactly diseasehe has, they said it might be possible a kind of tumor or inflamation. Darren's problem begins approximately 2 years ago, and it progressive since discovered. At beginning it was slight weakness in left feet, and after some time it become more serious problem. His left feet can't stay straight and he unable to control toes. Now he has suffering of walking difficulty. But since this problem begin and until now he hasn't any feeling of pain from it.
Blackwell Synergy - Cookie Absent inherited diseases, called peroxisome biogenesis disorders (PBD,) such asZellweger syndrome, neonatal adrenoleukodystrophy and refsums disease 7. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1742-4658.2005.04690.x
Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
Refsum Disease - Information / Diagnosis / Treatment / Prevention Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes. Refsum Disease. refsums disease http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a
Solve These Questions Please. 1.Refsum s disease? 2.prostaglandins are liberated in the circulation by thestimulation of which gland? refsums disease Due to accumulation of phytanic acid . http://www.aippg.net/forum/viewtopic.php?t=948
1st Edition 2002 refsums disease EMAIL GROUP - Contact Di Harman - e-mail addressDijon@alphalink.com.au. Would you like to be on a local e-mail group eg Stargardts,LCA, http://www.rpsa.org.za/news/1st_addition_2002.htm
Extractions: Grey Worldwide in South Africa developed an innovative Television Advert for Retina South Africa last year. The 30 second TV ad featured a typed script transforming into Braille. The Ad was aired on South African TV last year as part of World Retina Week. Grey Worldwide South Africa received a Bronze Clio for the ad, one of only 10 awards won by South African Advertising agencies. We congratulate the team at Grey and are proud to have them as our advertising agency. This annual cycling event organised by the Gauteng branch of Retina South Africa was held on the 24th February 2002. This year around 5000 cyclists took part in the 58km and 112km events, raising R120 000 for our Gene Tracking Project. The main event was won by Ian McLeod in a time of 2:36:22. Retina South Africa would like to thank Liberty, Dischem and all the other sponsors for their support. We would also like to thank Springs Wheelers our cycling club, Alberton Amateur Radio, Red Cross, Aberdare Cables, our portfolio supervisors and over 300 volunteers for an excellent job. Douglas Ryder, captain of the South African Cycling Team commended the race as one of the best organised cycle events in the country.
R - Medical Conditions Refsum Disease, The clinical and biochemical presentation of this disease, refsums disease, Two articles about this disease, clinical description, http://conditions.webdirs.net/medgroup-R-2.html
Extractions: Directory R : 447 page(s) Part : Rebekahs Rett Syndrome Personal story of Rebekah through 3 years of tests, diagnosis, and finally news of the gene being found. Recapture Hair A revolutionary formula developed in Helsinki. A weapon in the battle against thinning hair. Recent Developments in the Management of COPD Complete review of chronic obstructive pulmonary disease and the most recent abstracts on relieving the severity of its symptoms. Recipes My Mother Forgot Family style cooking and a caregivers guide to Alzheimers Disease. Links to AD sites, free newsletter, and an update on Isobel Rhodes. Reck MOTOmed Describes the MOTOmed line of adaptive exercise and physical therapy equipment. Recognition and Treatment of Stroke in Children The National Institute of Neurological Disorders and Stroke USA presents a comprehensive review of current knowledge, and makes suggestions for further research. Includes a table listing presumed risk factors. Recommendations for Test Performance and Interpretation...on Serologic A twotest approach for active disease and for previous infection using a sensitive enzyme immunoassay EIA or immunofluorescent assay IFA followed by a Western immunoblot, Centers for Disease Control and Prevention CDC, August 11, 1995. Recommendations on the management of thyroid cancer Key recommendations and overview of management of thyroid cancer differentiated and medullary in adults. Aimed at UK physicians. From the Royal College of Physicians, UK.
F - Medical Conditions Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, KrabbesDisease, Metachromatic Leukodystrophy, and refsums disease. http://conditions.webdirs.net/medgroup-F-2.html
Extractions: Directory F : 371 page(s) Part : Family Village Links to chat rooms, web sites and information about Von Hippel Lindaus disease. Family Village Opitz G Syndrome information and contact links. Family Village Aarskog Syndrome Offers links for support and information concerning this disease. Family Village Brachial Plexus Erbs Palsy Resources, contacts, chatrooms, links. Family Village Epilepsy Seizure Disorders Ketogenic Diet, Chat, Learn More About It, Web Sites, International and NonEnglish Resources. Family Village Library Leukodystrophy Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsums Disease. Family Village Fanconi Anemia Features contact information for the Fanconi Anemia Research Fund. Links to personal accounts and areas where one can learn about the disease. Family.com First Aid Fractures An excerpt on first aid for fractures from the Disney Encyclopedia of Baby and Child Care. FamilyDoctor.org Angina and Heart Disease Explanation as to what angina is, how to tell if heart disease is present, the treatments and side affects, and the prognosis. FamilyDoctor.org Elimination Problems Flow Chart
