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         Cystinosis:     more detail
  1. Cystinosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  2. Cystinosis: Webster's Timeline History, 1951 - 2007 by Icon Group International, 2010-05-28
  3. Cystinosis
  4. Cystinosis (DHEW publication no) by Joseph D Schulman, 1973
  5. Cystinosis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005
  6. A Parent's guide to cystinosis (NIH publication) by Stephen P Spielberg, 1981
  7. Fanconi's Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Lorraine, PhD Lica, 2006
  8. Gale Encyclopedia of Medicine: Fanconi's syndrome by Lorraine Lica PhD, 2002-01-01
  9. Celebration by Margaret Spufford, 1996-04

81. Encyclopædia Britannica
When they are about six to nine months old, infants with cystinosis refuseto eat, grow poorly, and urinate excessively; these symptoms…,
http://www.britannica.com/eb/article?eu=28896

82. ADVANCE For Physical Therapists And PT Assistants Online | Online Articles
Treating cystinosis A rare genetic disorder, cystinosis can create a varietyof physical problems for children, who may need the help of a PT.
http://www.advanceforpt.com/previous/jun4_01feature2.html

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Treating Cystinosis
A rare genetic disorder, cystinosis can create a variety of physical problems for children, who may need the help of a PT. By Doris A. Trauner, MD Beth knew there was something wrong with 8-month-old Mark.* He wasn't growing, and he was always thirsty. Mark's pediatrician passed off Beth's observations as the anxious worries of a new mother. But Mark's failure to thrive continued to concern Beth, who took him to other doctors. Most were puzzled and couldn't explain what was wrong. Then one physician looked into the child's eyes and saw the telltale crystals. A series of tests confirmed her suspicion. Mark had infantile nephropathic cystinosis. Cystinosis is a genetic disorder in which the accumulation of the amino acid cystine leads to cell dysfunction, which can affect the neurologic and neuromuscular systems, and wreak havoc on various organs. Along with organ damage, cystinosis can create feeding and swallowing problems, gross and fine motor delays, learning disabilities, and late neuromuscular and cognitive deterioration. As rehab practitioners, you're ideally suited to help children overcome some of the problems. But you can't change the course of any late deterioration.

83. Listings Of The World Health Conditions And Diseases Rare
cystinosis is a rare genetic disease affecting both children and adults.Search, Complete Directory. Cleidocranial
http://listingsworld.com/Health/Conditions_and_Diseases/Rare_Disorders/Cystinosi

84. Cystinosis Website Results :: Linkspider UK
cystinosis Websites from the Linkspider UK. cystinosis Directory. Complete Resultsfor cystinosis Related Topics. cystinosis Websites from Linkspider UK.
http://www.linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/Cystinosi
Cystinosis Websites from Linkspider UK Keyword: Cystinosis Linkspider UK Directory
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Directory Tree: Top Health Conditions and Diseases Rare Disorders : Cystinosis (5) Add URL Advertise Here! Personalize Amazon ... Weather
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85. Health Library - Cystinosis
888) 9512277 TOLL FREE. cystinosis. Self Help Clearinghouse. cystinosisFoundation, Inc. National network.Dedicated to providing
http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

86. OneLook® Search Results: Late Onset Juvenile Cystinosis
Science, Slang, Sports, Tech, Phrases We found one dictionary with English definitionsthat includes the word late onset juvenile cystinosis Tip Click on the
http://www.onelook.com/?w=late onset juvenile cystinosis

87. OneLook® Search Results: Early Onset Cystinosis
Religion, Science, Slang, Sports, Tech, Phrases We found one dictionary with Englishdefinitions that includes the word early onset cystinosis Tip Click on
http://www.onelook.com/?w=early onset cystinosis

88. CharityAmerica.com - Information Causeway
cystinosis Research Network. Burlington, MA. Mission Goals. The cystinosis ResearchNetwork is an all volunteer, nonprofit organization. Programs Services.
http://www.charityamerica.com/charities/infocauseway/charityabout.cfm?CharityID=

89. Clinical Study: 86-EI-0062, Trial Of Topical Cysteamine In The Treatment Of Corn
Title Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulationin cystinosis Number 86EI-0062 Summary This study will continue
http://clinicalstudies.info.nih.gov/detail/A_1986-EI-0062.html
Protocol Number: 86-EI-0062
Title:
Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis
Number:
86-EI-0062
Summary:
This study will continue to evaluate the long term safety and effectiveness of cysteamine eye drops for treating cystine crystals in the corneas of patients with cystinosis. These drops are not sold commercially and are available only through this study. New patients may enroll in the study to obtain them. Cystinosis is an inherited disease that results in poor growth and kidney disease, among other things. The damage to the kidneys and other organs is thought to be due to accumulation of cystine inside the cells of various body tissues. This chemical also accumulates in the cornea-the covering of the eye over the pupil and iris. After 10 to 20 years, the corneas of some patients become so packed with crystals that the surfaces may become irregular, occasionally causing small, painful breaks. Patients enrolled in a NIH study on cystinosis are receiving the drug cysteamine. Taken by mouth, this drug reduces cystine in some tissues, but not in the cornea, perhaps because it does not reach the corneal cells. The current study was begun to test whether cysteamine eye drops could prevent or reduce corneal cystine crystals in these patients. The drops have been very effective in removing crystals and reducing pain in patients who take the medication as directed. Patients who do not take the medication as prescribed do not benefit.

90. CYSTINOSIS
cystinosis. Finding the key. Etiology. cystinosis. MECHANISM. Ø Cystineis an amino acid found in many different proteins in the body.
http://www.carleton.ca/~cwichman/49355/CYSTINOSIS.htm
CYSTINOSIS
Finding the key
Etiology
rare inherited, autosomal-recessive lysosomal storage disease
estimated 1 in every 200 live births
children appear normal at birth, following a normal pregnancy
most children have blonde hair, blue eyes and have very fair complexions, although it can affect Blacks, Hispanics and those of Arab and Indian decent
CYSTINOSIS
MECHANISM
Cystine is an amino acid found in many different proteins in the body
Cystinosis is defective transport of the amino acid cystine out of lysosomes characterized by the accumulation of cystine in tissues throughout the body, leading to widespread tissue and organ damage
Microscopic slides of crystals as the are formed in relatively every cell in the body
Infantile Nephropathic Cystinosis
Intermediate (late onset)
Adult or Benign
Infantile Nephropathic Cystinosis
is the most severe form
abnormal sensitivity to light
loss of color in the retina of the eyes, can appear as early as 6 to 12 months of age.
leads to kidney failure and eventual, multi system failure
CHARACTERISTICS
presents as failure to thrive
severe rickets
photophobia
gastrointestinal problems
often G or J tube require to supplement nutrition
CHARACTERISTICS
polyuria and polydipsia
excessive thirst and urination
urinary losses (including electrolytes, glucose, phosphate, and amino acids)

91. Entrez-PubMed
Free in PMC, Nephropathic cystinosis associated with cardiomyopathy A 27yearclinical follow-up. Abstract, cystinosis (author's transl) Beitr Pathol.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Link&db=PubMed&dbFrom=PubMed&f

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