41. Health Information Resource Database: Cystinosis Foundation The cystinosis Foundation is a nonprofit organization formed with the The Foundation produces several information sheets on cystinosis related topics. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2199

42. Cystinosis Foundation United Kingdom - Patient UK cystinosis Foundation United Kingdom Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/26740027/

Cystinosis Foundation United Kingdom 174 Corwen Road Tilehurst Reading Helpline: 0118 948 4754 Web: www.cystinosis.org.uk The aims and objectives of the Cystinosis Foundation United Kingdom are:- Patient support - to provide support to anyone diagnosed with Cystinosis, as well as their families. Parents and the adult patients will be offered information on an advisory level about the condition and about referrals. They will also receive a regular newsletter and be invited to conferences organised by the Foundation and it's supporting organisations. Education - To highlight the disorder to members, the medical profession (particularly at GP level) and the community as a whole through receptions, the regular medical conferences already organised and by distribution of literature so that children with the disorder can be identified more quickly. Research support - To assist in the promotion of research into treatment for the curing of cystinosis. Checked: January 2005 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look...

43. Cystinosis - Patient UK cystinosis. cystinosis Foundation UK Eire Related pages. Patient Support. cystinosis Foundation United Kingdom http://www.patient.co.uk/showdoc/231/

Cystinosis UK sources of information and / or support Support for those born with the disorder and their families, whilst raising awareness of it to the medical fraternity (particularly at GP level). Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look... Related pages in Patient UK Patient Support Cystinosis Foundation United Kingdom Other - Useful resources Pictures, diagrams, photos, images, etc. Evidence based medicine Online textbooks and journals Guidelines ... Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin. Health Insurance . Visit the Patient UK finance channel for quotes on health insurance and other financial products such as mortgages, life insurance, etc.

44. Cystinosis cystinosis. Printable version. References. Gahl WA, Thoene JG, Schneider JA. cystinosis. N Engl J Med. 2002 Jul 11;347(2)111-21. PMID 12110740 http://www.humpath.com/article.php3?id_article=6042

45. Cystinosis --  Encyclopædia Britannica cystinosis inborn error of metabolism resulting in the deposition of crystals of the amino acid cystine in various body tissues. http://www.britannica.com/eb/article-9028438

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents cystinosis Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products cystinosis  Encyclopædia Britannica Article Page 1 of 1 cystinosis... (75 of 128 words) var mm = [["Jan.","January"],["Feb.","February"],["Mar.","March"],["Apr.","April"],["May","May"],["June","June"],["July","July"],["Aug.","August"],["Sept.","September"],["Oct.","October"],["Nov.","November"],["Dec.","December"]]; To cite this page: MLA style: "cystinosis." http://www.britannica.com/eb/article-9028438

46. StarDrifter Hot Air Balloons, LLC - Cystinosis Info cystinosis Research Network cystinosis Central. What is cystinosis? cystinosis is a genetic disease characterized by the accumulation of amino acid http://www.keysystemsplus.com/stardrifter/cystinosis.html

Cystinosis Links: Cystinosis Foundation Cystinosis Research Network Cystinosis Central What is Cystinosis? Cystinosis is a genetic disease characterized by the accumulation of amino acid cystine in organs of the body eventually causing kidney disease. Symptoms such as excessive thirst and urination, failure to thrive, rickets, and episodes of dehydration begin in infantile Cystinosis between the ages of 6-18 months. Visit the Cystinosis Foundation Website to learn more about this disease. Coming Soon! Child's picture book available by the end of April A Day in the Life of Shawn...a Child with Cystinosis Only $5 (paperback). 100% of the proceeds will go to the Cystinosis Foundation for research. Contact Holly if you would like to purchase one for yourself or donate one to a Cystinosis family, hospital or clinic. Phone: 507.245.3844 An annual balloon rally is held in February of each year here in Southern Minnesota. Usually 3-6 Balloonists fly. For the rides that are given, 100% of money donated goes to the Cystinosis Foundation for research. Online since 1996 - Last updated April 2005

47. NEJM -- Cystinosis Review Article from The New England Journal of Medicine cystinosis. http://content.nejm.org/cgi/content/short/347/2/111

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 347:111-121 July 11, 2002 Number 2 Next Cystinosis William A. Gahl, M.D., Ph.D., Jess G. Thoene, M.D., and Jerry A. Schneider, M.D. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... PubMed Citation Cystinosis is an autosomal recessive disorder with an estimated incidence of 1 case per 100,000 to 200,000 live births. The gene for cystinosis, CTNS, was mapped to chromosome 17p13 in and was isolated in 1998. In nephropathic cystinosis, free cystine accumulates continuously in lysosomes, eventually resulting in intracellular crystal formation throughout the body. In a parallel fashion, the acquisition of clinical and basic information about cystinosis over the past four decades has crystallized our understanding of the cause and treatment of this previously enigmatic disease. Since therapy has proved extremely effective, early diagnosis and treatment are critical

48. NEJM -- Improved Renal Function In Children With Cystinosis Treated With Cysteam Original Article from The New England Journal of Medicine Improved Renal Function in Children with cystinosis Treated with Cysteamine. http://content.nejm.org/cgi/content/short/328/16/1157

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 328:1157-1162 April 22, 1993 Number 16 Next Improved Renal Function in Children with Cystinosis Treated with Cysteamine Thomas C. Markello, Isa M. Bernardini, and William A. Gahl Full Text Add to Personal Archive Add to Citation Manager Notify a Friend ... PubMed Citation ABSTRACT Background The lysosomal storage disease cystinosis results in renal failure at approximately 10 years of age. Although oral cysteamine therapy is recognized to preserve kidney function, the extent of renal benefit has not been determined. Methods Between 1960 and 1992, we determined 24-hour creatinine clearances in 76 children with cystinosis during 1081 admissions to the National Institutes of Health. Seventeen children were considered to have received adequate treatment with cysteamine, since they had depletion of cystine from leukocytes and began therapy before the age of 2 years; treatment lasted a mean of 7.1 years. Thirty-two children were considered to have received partial treatment, since they had poor compliance with therapy

49. Short Description Of Cell Lines. Pathology: Cystinosis, Early-onset Or Infantile Pathology cystinosis, earlyonset or infantile nephropathic type *219800 OMIM record. - By selecting the cell line name, you will receive the detailed http://www.biotech.ist.unige.it/cldb/pat57.html

Version Short description of cell lines. Pathology: cystinosis, early-onset or infantile nephropathic type OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian amnion GEIMM human, Caucasian ... By Beatrice...

50. Dorlands Medical Dictionary adolescent nephropathic cystinosis, late onset juvenile c. adult nephropathic cystinosis, benign c. benign cystinosis, a type of cystinosis that does not http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co

51. Nephropathic Early-onset Cystinosis Information Diseases Database Nephropathic earlyonset cystinosis,cystinosis infantile, Disease Database Information. http://www.diseasesdatabase.com/ddb29820.htm

Diseases Database Index Sponsors Contact ... Previous Page Nephropathic early-onset cystinosis information Search 2 synonyms or equivalents were found. Nephropathic early-onset cystinosis aka/or Cystinosis infantile may cause or feature (Follow link for list.) may be allelic with (Follow link for list.) belong(s) to the category of (Follow link for list.) No UMLS definitions. Nephropathic early-onset cystinosis: specific web sites Send Nephropathic early-onset cystinosis to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 02:16:11 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

52. Project: Cystinosis: Molecular Characterisation - Evaluation Of Therapy (www.ond Titel, cystinosis moleculaire karakterisering evaluatie van therapie. Abstract, cystinosis, an inborn error of metabolism with an autosomal recessive http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1243088/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Cystinosis: molecular characterisation - evaluation of therapy Print View Titel Cystinosis: moleculaire karakterisering - evaluatie van therapie Abstract Cystinosis, an inborn error of metabolism with an autosomal recessive inheritance, is characterized by lysosomal storage of cystine due to impaired transport of cystine out of the lysosome. Clinically it is revealed by Fanconi syndrome, slowly progressing to renal failure. Recently the gene responsible for transport of cystine has been cloned. The gene encodes for a lysosomal membrane protein called cystinosin and maps to chromosome 17p. In this project mutation detection studies will be performed and the pathogenesis will be investigated in cultured human proximal tubule cells. Period 01/2000 - unknown Related organisations Secretariat: Department of Paediatrics (KUN) Related persons Project leader: Dr. H.J. Blom

53. Project: Cystinosis: A Better Treatment Strategy And Insight Into Its Pathogenes Abstract, cystinosis is an autosomal recessively inherited disease which is caused Aim of this study is to arrive at a better treatment of cystinosis. http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1282121/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Cystinosis: a better treatment strategy and insight into its pathogenesis Print View Titel Cystinose: een betere behandelingsstrategie en inzicht in de pathogenese Abstract Cystinosis is an autosomal recessively inherited disease which is caused by a mutation in cystinosin. This is a transport protein localized in the lysosome, needed for the transport of cystine from the lysosome. In a way that is not yet understood this leads to Fanconi syndrome and later - at the age of about 9 - to renal insuffiency along with increased damage to other organs, particularly the thyroidal gland and the eye (cornea, retina). Therapy with cysteamine, which lowers the concentration of cystine in the lysosomal compartment, only has a retarding effect on the occurrence of symptoms. Aim of this study is to arrive at a better treatment of cystinosis. The first part of the research aims at a more effective treatment with cysteamine. Probably the present dosage of 4 times a day is insufficient. The cystine concentration will be monitored during 24 hours in the granulocyte, lymphocyte and, if possible, monocyte. A concentration in the heterozygote range over 24 hours should be strived after. This is not reached with the present scheme. Since it is assumed that the increased cystine concentration in the lysosome leads to a lower ATP production, the mitochondrial function will be tested in granulocyte, lymphocyte and fibroblasts and the result will be related to the cystine concentration.

54. BioMed Central | Full Text | Nephropathic Cystinosis Associated With Cardiomyopa Nephropathic cystinosis is an autosomal recessive disease resulting from We describe the clinical course of a nephropathic form of cystinosis diagnosed http://www.biomedcentral.com/1471-2369/3/8

home journals A-Z subject areas advanced search ... Volume 3 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Dixit MP ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Case report Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up Mehul P Dixit and Ira Greifer Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA Division of Nephrology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, USA BMC Nephrology The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1471-2369/3/8 Received Accepted Published Keywords: Nephropathic cystinosis, Renal transplant, Cardiomyopathy, Pseudoaneurysm, Long term survivor Abstract Background Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. Case report We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years. His death from a ruptured pseudoaneurysm associated with a restrictive cardiomyopathy is noteworthy. A limited cardiac autopsy revealed the presence of cystine crystals in interstitial cardiac histiocytes and one myocardial cell, along with 1000-fold higher tissue cystine content of the left ventricular myocardium compared to patients without cystinosis, suggesting the possibility of direct cystine mediated metabolic injury.

55. BioMed Central | Abstract | Nephropathic Cystinosis Associated With Cardiomyopat Nephropathic cystinosis associated with cardiomyopathy A 27year clinical Nephropathic cystinosis is an autosomal recessive disease resulting from http://www.biomedcentral.com/1471-2369/3/8/abstract

home journals A-Z subject areas advanced search ... Volume 3 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Dixit MP ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Case report Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up Mehul P Dixit and Ira Greifer Division of Nephrology, Department of Pediatrics, University of Arizona, Tucson, USA Division of Nephrology, Department of Pediatrics, Albert Einstein College of Medicine, Bronx, USA BMC Nephrology Published Abstract Background Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. Case report We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that was managed medically, and progressive heart failure at the age of 33 years. His death from a ruptured pseudoaneurysm associated with a restrictive cardiomyopathy is noteworthy. A limited cardiac autopsy revealed the presence of cystine crystals in interstitial cardiac histiocytes and one myocardial cell, along with 1000-fold higher tissue cystine content of the left ventricular myocardium compared to patients without cystinosis, suggesting the possibility of direct cystine mediated metabolic injury.

56. Cystinosis In Benign or Adult cystinosis, crystalline cystine accumulates primarily in the One of the major complications of cystinosis is Renal Fanconi Syndrome http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord59

57. IngentaConnect Pharmacological Treatment Of Nephropathic Cystinosis With Cysteam cystinosis, clinically recognised since 1903, is an autosomal recessive lysosomal storage disease caused by mutations in CTNS. http://www.ingentaconnect.com/content/apl/eop/2004/00000005/00000011/art00006

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Pharmacological treatment of nephropathic cystinosis with cysteamine Authors: Robert Kleta; William A Gahl Source: Expert Opinion on Pharmacotherapy , Volume 5, Number 11, 1 November 2004, pp. 2255-2262(8) Publisher: Ashley Publications View Table of Contents full text options Abstract: Keywords: CTNS cystamine cysteamine cystinosin ... renal Fanconi syndrome Document Type: Review article DOI: The full text article is available for purchase $75.00 plus tax The exact price (including tax) will be displayed in your shopping cart before you check out. You will be able to remove this item from your shopping cart at any time before you have completed check-out. View Table of Contents Back to top Terms and Conditions Page Help Quick Search Electronic content Fax/Ariel content Journal or book title Sign in: User name Password Remember me forgotten your password?

58. Cystinosis Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CYSTINOSIS.asp

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cystinosis, a rare familial crystal deposition disease manifested by widespread deposits of cystine crystals in the tissues of the body, specifically within cellular lysosomes. Infantile, juvenile, and adult varieties have been identified. Frequently damage to renal tubules and glomeruli results in electrolyte imbalance, cardiac failure, anaemia, rickets, and retinopathy. Cystine crystals may be deposited in bone, but the relationship of these lesions to radiolucent cystic lesions observed in bones and joints is not clear. DR The Encyclopaedia of Medical Imaging Volume III 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

59. -Images In Clinical Practice We present our experience with 10 cases of infantile cystinosis. The infantile or nephropathic cystinosis involves many organs and systems particularly http://www.indianpediatrics.net/jan2003/jan-21-24.htm

Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2003;40: 21-24 Infantile Cystinosis M. Mirdehghan, A. Ahmadzadeh, M. Bana-Behbahani, Ismail Motlagh, Bashir Chomali From the Pediatric Nephrology Unit, Abuzar Children’s Medical Center, University of Medical Sciences, Ahvaz, Iran. Correspondence to: M. Mirdehghan, Director, Abuzar Pediatric Center, University of Medical Sciences, Ahvaz-Iran. E-mail: abuzarhosp-library@yahoo.com Manuscript received: July 16, 2001; Initial review completed: August 23, 2001; Revision accepted: June 26, 2001. Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement. Key words: Cystinosis, Infant.

60. Archives Of Pathology & Laboratory Medicine: Crystalline Histiocytosis In Heredi Nephrotic cystinosis is a rare autosomalrecessive disorder characterized Infantile nephropathic cystinosis is the most common and most severe variant. http://www.findarticles.com/p/articles/mi_qa3725/is_200209/ai_n9143079

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Sep 2002 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Crystalline histiocytosis in hereditary cystinosis Sep 2002 by Gebrail, Fadi Knapp, Mark Perrotta, Gerardo Cualing, Hernani Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. The patient was a 23-year-old white man who underwent a renal transplant at age 12 years for end-stage renal disease secondary to nephropathic cystinosis. The patient had been taking several immunosuppressive medications since receiving the transplant. The patient's clinical course was complicated by episodes of gout and pancytopenia. At a follow-up examination in July 2001, the patient was noted to have a decreased white blood cell count of 3100/muL; hemoglobin, 6.7 g/dL; and platelets, 221 x 10^sup 3^/muL. A bone marrow biopsy was performed, revealing a hypocellular bone marrow with mild megaloblastoid erythropoiesis, 3+ stainable iron with no ringed sideroblasts, and numerous macrophages containing clusters of hexagonal, tubular, and rectangular cystine crystals (Figure 1). The crystals appeared birefringent using polarizing and first-order compensator filters (Figures 2 and 3). Flow cytometry and chromosome analysis revealed no abnormalities.

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