61. BioMed Central | Full Text | Nephropathic Cystinosis Associated With Cardiomyopa Nephropathic cystinosis associated with cardiomyopathy A 27year clinical follow-up Mehul P Dixit 1 and Ira Greifer 2 1 Division of Nephrology, Department of http://www.biomedcentral.com/1471-2369/3/8

home journals A-Z journals by subject advanced search ... Volume 3 Viewing options Abstract Full text PDF Pre-publication history Other links: E-mail to a friend Download references Post a comment PubMed record ... Related articles in PubMed Search PubMed For Dixit MP Greifer I 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.

62. Entrez PubMed Click here to read Clinical and molecular aspects of nephropathic cystinosis. McDowell GA, Town MM, van t Hoff W, Gahl WA. Section http://www.biomedcentral.com/pubmed/9587063

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order J Mol Med. 1998 Apr;76(5):295-302. Related Articles, Links Clinical and molecular aspects of nephropathic cystinosis. McDowell GA, Town MM, van't Hoff W, Gahl WA. Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1830, USA.

63. Short Description Of Cell Lines. Pathology: Cystinosis, Early-onset Or Infantile Version 4.200205, Short description of cell lines. Pathology cystinosis, earlyonset or infantile nephropathic type *219800 OMIM record. 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...

64. Conditions And Diseases - Cystinosis Top Links cystinosis Web Site Links. cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Rare_Disorde

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Cystinosis Web Site Links Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Research Network Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. Cystinosis : Patient UK Information for those living in the United Kingdom concerning this disease. Organizations, help and advice. Cystinosis Foundation Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. Readers Digest Health Cystinosis, its alternate names, a general discussion and resources. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative.

65. Health Library - cystinosis. Important It is possible that the main title of the report cystinosis is not the name you expected. Adult cystinosis. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

66. Open House cystinosis. Introduction. Here in Ireland, cystinosis affects just nine people. Six of these are children and Luke Hennelly is one of them. http://www.rte.ie/tv/openhouse/2003/1103/Cystin.html

Sites A-Z News Sport Business ... Contact the Show Cystinosis Introduction Another rare genetic disease has recently come to light and effects just one thousand people worldwide. Here in Ireland, cystinosis affects just nine people. Six of these are children and Luke Hennelly is one of them. He joins us today with his Mum and Dad, Ann Marie and Des. Backround Luke Hennelly, who will be three on the eighteenth of November, suffers with the rare genetic disease, Cystinosis. When Luke was six months old he became suddenly ill. He was very lethargic, getting sick and he developed a rash. His parents thought it was as a result of a food allergy. They brought the toddler to Our Lady’s Hospital in Crumlin. There, it transpired he was the victim of a rare genetic disease, cystinosis. Luke’s kidneys were loosing essential electrolytes and he had rickets (a brittle bone disease). He was immediately put on an intravenous drip for dehydration and loss of nutrients. For the next year-and-a-half, he was hospitalised several times and his growth slowed as a result. Treatment was severe and caused dreadful vomiting. He reached some of his milestones late, but now, at almost three, he’s catching up. Cystinosis Cystinosis is a genetic disease affecting almost all of the organs and muscles of the body. Symptoms include failure to thrive, excess urination, excess thirst, severe dehydration, rickets and if left untreated, death at a very young age.

67. :: Ez2Find :: Cystinosis Guide cystinosis, Guides, cystinosis. ez2Find Home Directory Health Conditions and Diseases Rare Disorders cystinosis (3) Related Categories http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Cystinosis Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Cystinosis ez2Find Home Directory Health Conditions and Diseases ... Rare Disorders : Cystinosis Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Urological Disorders Web Sites Cystinosis Central [Site Info] [Translate] [Open New Window] Information about this disorder, conferences, data for physicians, updates and links. URL: http://medicine.ucsd.edu/cystinosis/INDEX.htm Cystinosis Foundation [Site Info] [Translate] [Open New Window] Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. URL: http://www.cystinosisfoundation.org

68. Kidney Resource Page cystinosis. cystinosis News. Newsdesk search tools will use either cystinosis as a subject or override the titles and ids. Popular Weblinks to cystinosis. http://links.nephron.com/diseases_categories/other_conditions/cystinosis

Home Links Professional Resources Physicians ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed Nucleotide OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch - abstract by journal, date or author Cystinosis Cystinosis Navigation HOME NEWS WEBLINKS JOURNALS ... BOARDS Cystinosis News Newsdesk search tools will use either Cystinosis as a subject or override the titles and ids Popular Weblinks to Cystinosis We will develop a CMF to enter URLs and titles that will be specific to Cystinosis Cystinosis AV Presentations We can make Powerpoint presentations for Cystinosis and have them autoload from MS PPT into a ZOPE folder object as compressed jpg files. Introduction to Cystinosis We will create a CMF for entering introductions.

69. Conditions And Diseases: Rare Disorders: Cystinosis Health and Home. cystinosis. research and links to other resources. http//www.cystinosis.org. cystinosis. Last Update Mon May 10 2004. http://www.health-home.net/Conditions_and_Diseases/Rare_Disorders/Cystinosis/

Health and Home Cystinosis HOME LOGIN ADD A LINK MODIFY A LINK ... PARTNER Looking for something in particular? the entire directory only this category Home Conditions and Diseases Rare Disorders : Cystinosis LINKS: Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. http://medicine.ucsd.edu/cystinosis/INDEX.htm Cystinosis Foundation Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. http://www.cystinosisfoundation.org Cystinosis Research Network Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. http://www.cystinosis.org Cystinosis Last Update: Mon May 10 2004

70. Startplane /Health/Conditions_and_Diseases/Rare_Disorders/Cystinosis cystinosis. See also Links. cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. http://www.startplane.com/Health/Conditions_and_Diseases/Rare_Disorders/Cystinos

Start Plane About Us Free Webpages Top Health ... Cystinosis Cystinosis Top Cystinosis Sites Your Site Here! - Get your site listed on StartPlane! The #1 performance based directory online! See also: Top/Health/Conditions and Diseases/Nutrition and Metabolism Disorders Links Cystinosis Central - Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Foundation - Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. Cystinosis Research Network - Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. This category needs an editor Last Updated: 2003-06-04 19:34:14 Search: search the entire directory search this category only Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory and may have been modified by DWodp Powered by DWodp pro Dominion Web

71. Cystinosis Home Health Conditions and Diseases Rare Disorders cystinosis (4) cystinosis Research Network Information about the organization and their mission. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/RareDisorders/Cysti

Directory Home Health Conditions and Diseases Rare Disorders : Cystinosis (4) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Urological Disorders Cystinosis Central - Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Research Network - Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. Cystinosis Foundation - Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. Readers Digest Health - Cystinosis, its alternate names, a general discussion and resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links cheap dental insurance fioricet cheap depression medication Diuretic Formulas ... protein pills The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

72. Cornea & External Diseases-Cystinosis Non Infectious. cystinosis. Autosomal recessive metabolic disorder that causes cystine crystal deposition in multiple organs. Clinical http://dro.hs.columbia.edu/cystinosis.htm

Oculoplastics Infectious Non Infectious Trauma ... Case Reviews Non Infectious Cystinosis Autosomal recessive metabolic disorder that causes cystine crystal deposition in multiple organs. Clinical features: Symptoms: Glare, phophobia and mild decrease in vision as the deposits may accumulate progressively throughout the cornea and involve visual axis Decreased corneal sensation Signs: Needle shaped, refractile, polychromatic corneal crystal deposits May involve conjunctiva and iris Lenticular or retinal deposits may occur in a more severe case Management: Treat the systemic disease. Topical cysteamine drops may decrease the crystals accumulation rate. Penetrating keratoplasty may be considered in severe cases.

73. Healthfinder® — Cystinosis Foundation The cystinosis Foundation is a nonprofit organization formed with the objectives of raising awareness among the general public and the medical community, as http://www.healthfinder.gov/orgs/HR2199.htm

health library just for you health care organizations search: help Cystinosis Foundation organization URL(s) cystinosis@ucsd.edu www.cystinosisfoundation.org/ other contact information 2516 Stockbridge Drive Oakland, CA 94611 800-392-8458 (Voice - Toll-free) 209-222-7997 (Voice) description The Cystinosis Foundation is a nonprofit organization formed with the objectives of raising awareness among the general public and the medical community, as well as raising funds for research into the causes of this rare metabolic disease. Cystinosis, a genetic disorder, afflicts from 200 to 300 children in the United States. The Foundation will respond to inquiries from parents of victims and other concerned individuals. The Foundation is establishing a national directory of information from cystinosis-affected families which will be made available to doctors working in research. The Foundation serves as a support group to families afflicted with cystinosis. The Foundation is supported through donations from individuals and companies. print resources The Foundation produces several information sheets on cystinosis related topics. Serial publication: Cystinosis Foundation (newsletter), quarterlynews on research, fund raising, and future projects as well as an advice column for parents.

74. Cystinosis cystinosis. cystinosis is an inherited metabolic disorder first recognized in the 1930’s by Fanconi. In children who inherit two http://www.pedneph.mcgill.ca/Services/cystinosis.htm

The Montreal Children's Hospital Division of Pediatric Nephrology UN HOPITAL D'ENSEIGNEMENT McGILL UNIVERSITY A TEACHING HOSPITAL Centre universitaire de santé (CUSM) McGill University Health Centre (MUHC) Cystinosis In the spring of 1998, Antignac and an international group from France, England and Australia announced the isolation of the cystinosis gene (Nature Genetics 18:319-324, 1998). This accomplishment is likely to help us understand which patients will have the worst outcomes and will, hopefully, open the door to gene therapy in the future. We are currently collaborating with Dr. Alex MacKenzie (Children

75. Cystinosis Support Group Support group for children with cystinosis their parents. Fees KEY WORDS.......cystinosis Support Group. Address, 700 Children s Dr. Columbus, OH 43205. http://www.mariononline.com/careline/cystinosissupport.htm

Cystinosis Support Group Address 700 Children's Dr. Columbus, OH 43205 Phone 614-722-6300 or Emergency Phone Contact Person Hrs. of Operation Monday - Friday: 8:00 a.m. - 4:30 p.m. Eligibility of Service Description: Fees KEY WORDS Alphabetical Database Search A complete listing of every agency in our database. Contact Webmaster

76. Database Search Results endorsement by the US Department of Health and Human Services.. Searched keywords for cystinosis. cystinosis Foundation. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Cystinosis

77. Health Information Resource Database: Cystinosis Foundation cystinosis Foundation. Contact Information. cystinosis, a genetic disorder, afflicts from 200 to 300 children in the United States. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2199

78. Cystinosis Fundraiser, A Success January 30, 2004 Hicksville Illustrated News cystinosis Fundraiser, a Success Hicksville, New York, US. News, cystinosis Fundraiser, a Success. http://www.antonnews.com/hicksvilleillustratednews/2004/01/30/news/cystinosis.ht

ONLINE EDITION FRIDAY January 30, 2004 News Sports Opinion Obituaries Contents News Cystinosis Fundraiser, a Success By Victoria A. Caruso On Jan. 24, more than 320 people attended the Cystinosis Research Network's 1st Annual Dinner Dance at the Milleridge Cottage in Jericho. Dubbed "Miracles at Milleridge" by its organizer Marybeth Krummenacker of Hicksville, the dinner dance raised $15,000, which will benefit the Cystinosis Research Network (CRN) and its ongoing efforts toward finding a cure for this rare metabolic disease. "The event was an overwhelming success," said Krummenacker, whose daughter, Laura, was diagnosed with cystinosis when she was just 2 years old. "I feel so blessed to have had such a network of family and friends there to support the cause." Cystinosis is a disease caused by two parents who both carry one defective gene and one normal gene. The recessive gene may lie dormant for many generations until the two people with the defective gene have children and pass the defective gene on to their child. Parents are unaware they are carriers of the defective gene until they pass it on and their child starts to demonstrate symptoms around 18 months to 2 years old. Currently, only about 2,000 individuals worldwide have been diagnosed with cystinosis, with only about 500 confirmed cases in the United States. Due to the lack of awareness and education within the medical community, exact numbers are unknown because the disease is often undiagnosed and many children die before they are diagnosed.

79. Families Rally For Cystinosis Research December 26, 2003 Hicksville Illustrated News Families Rally for cystinosis Research Hicksville, New York, US. News, Families Rally for cystinosis Research. http://www.antonnews.com/hicksvilleillustratednews/2003/12/26/news/

ONLINE EDITION FRIDAY December 26, 2003 News Sports Opinion Obituaries ... Contents News Families Rally for Cystinosis Research Local Fundraiser Scheduled for January 24 By Victoria A. Caruso The Krummenackers began suspecting something was wrong with their daughter, Laura, when she was just 2-years-old. "Laura was under-weight, small in stature and considered a 'failing to thrive' child," said Marybeth Krummenacker of Hicksville. "Instinctively, I knew something was wrong, but didn't know how to get doctors to listen to me." What Marybeth didn't know at the time was that the symptoms Laura was experiencing - excessive thirst and urination, rickets and dehydration, were the prime symptoms of infantile cystinosis. "I had never heard of cystinosis before," said Marybeth. In February 1989, Marybeth and Larry Krummenacker admitted their 3-year-old daughter Laura to Winthrop University Hospital with what they believed was a serious bout of the flu. But when test results showed that Laura's kidney functions were extremely elevated and her potassium levels dangerously low, the Krummenackers knew something was more seriously wrong with their child. Months and many medical tests later, their suspicions were confirmed when a pediatric nephrologist (kidney specialist) informed the Hicksville parents that their youngest child had Infantile Nephropathic Cystinosis, a rare inherited disease that effects all major organs in the body. According to the Cystinosis Research Network, of which Marybeth Krummenacker is a co-founder and current vice president of education/awareness, cystinosis is passed on by parents who both carry one defective gene and one normal gene. The recessive gene may lie dormant for many generations until the two people with the defective gene have children and pass the defective gene on to their child. Parents are unaware they are carriers of the defective gene until they pass it on and their child starts to demonstrate symptoms around 18 months to 2-years-old.

80. PhatNav Directory - Health/Conditions_and_Diseases/Rare_Disorders/Cystinosis WebSites. cystinosis Central. Information about this disorder, conferences, data for physicians, updates and links. cystinosis Foundation. http://www.phatnav.com/directory/Health/Conditions_and_Diseases/Rare_Disorders/C

Games Exploration Attitude Site Search Encyclopedia Atlas/Almanac Kids' Web Sites Classic Books Home Games Arcade Games Strategy Games ... Cystinosis NOTE: Entries below may contain matching catagories, paths to similar directories, and suggested Web sites. Scroll to see all. Similar Catagories in This Section Health/Conditions and Diseases/Urological Disorders Health/Conditions and Diseases/Genetic Disorders WebSites Cystinosis Central Information about this disorder, conferences, data for physicians, updates and links. Cystinosis Foundation Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising. Cystinosis Research Network Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources. Top of this directory. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PhatNav and Diagonal Media Group Inc.

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