61. Gout And Lesch-Nyhan Syndrome Gout and leschnyhan syndrome. Gout (Clin. Corr. Treatment Allopurinol(an inhibitor of xanthine oxidase) lesch-nyhan syndrome (Clin. Corr. http://www.pharmacy.purdue.edu/~mcmp304/SlideArchives/1011/tsld003.htm

Gout and Lesch-Nyhan Syndrome Gout (Clin. Corr. 19.1) Characteristic: Elevated uric acid in serum and urine Sequelae: Sodium urate crystals in kidney and joints Causes: Elevated purine biosynthesis (metabolic disorder with various causes) Severity: Not life threatening Treatment: Allopurinol (an inhibitor of xanthine oxidase) Lesch-Nyhan Syndrome (Clin. Corr. 19.2) Characteristic: Elevated uric acid in serum (hyperuricemia) Neurological Symptoms: Spasticity, mental retardation, self-mutilation Cause: Hereditary mutation in HGPRTase (converts hypoxanthine to IMP) that decreases its activity Severity: Ultimately fatal at a young age Treatment: Allopurinol helps, but not neurological symptoms Previous slide Next slide Back to first slide View graphic version

62. Gout And Lesch-Nyhan Syndrome First Previous Next Last Index Text. Slide 3 of 12. http://www.pharmacy.purdue.edu/~mcmp304/SlideArchives/1011/sld003.htm

First Previous Next Last ... Text Slide 3 of 12

63. Lesch-Nyhan Syndrome | Horizon Health And Wellness lesch-nyhan syndrome affects 1 in 400,000 live births....... Health and Wellness. Health AZ leschnyhan syndrome. lesch-nyhan syndrome. Leipzig,G. Victor http://bcbsnj.myhealthyhorizon.com/topic/topic100587078

Physician Directory About Us Horizon Links Site Map ... Resources Health and Wellness Cool Tools Medical Library Self-Care Centers Online Pharmacy Health Topics Search Home Alternative Health Children's Health Men's Health ... Self-Care Centers Health and Wellness Health A-Z Lesch-Nyhan Syndrome Leipzig, G. Victor Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Lesch-Nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome develop physical handicaps, mental retardation, and kidney problems. It is caused by a total absence of an enzyme. Self injury is a classic feature of this genetic disease. Description Lesch-Nyhan syndrome was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan. The syndrome is caused by a severe change (mutation) in the HPRT gene. This gene is responsible for the production the enzyme called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT catalyzes a reaction that is necessary to prevent the buildup of uric acid. A severe mutation in the HPRT gene leads to an absence of HPRT enzyme activity which, in turn, leads to markedly elevated uric acid levels in the blood(hyperuricemia). This buildup of uric acid is toxic to the body and is related to the symptoms associated with the disease. Absence of the HPRT enzyme activity is also thought to alter the chemistry of certain parts of the brain, such as the basal ganglia, affecting neurotransmitters (chemicals used for communication between nerve cells), acids, and other chemicals. This change in the nervous system is also related to the symptoms associated with Lesch-Nyhan syndrome.

64. The Health Library — Nutritional & Metabolic See Blood and Lymphatic Systems, Anemia. leschnyhan syndrome. Lesch-NyhanSyndromeNINDS. lesch-nyhan syndrome GeneReviews, University of Washington. http://healthlibrary.stanford.edu/resources/internet/bodysystems/nutrition4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Caffeine Carbohydrates Fats Fiber ... Page 7 Metabolic Disease (General) Metabolic Disorders:MEDLINEplus Metabolic Disorders:Merck What Is a Metabolic Disease:Canadian Society for Metabolic Disease How Many Are There? (overview of the more frequently-encountered metabolic diseases):Canadian Society for Metabolic Disease ... Adult Metabolic Transition Project (for young adults with metabolic diseases):University of Washington Metabolic Diseases (A -F) Acid-Base Imbalance Acidosis:MEDLINEplus Medical Encyclopedia Metabolic Acidosis:Hendrick Health System Leucine Metabolism Disorders:Mead Johnson Renal Tubular Acidosis:NIDDK ... Respiratory Alkalosis:Hendrick Health System Adrenoleukodystrophy Adrenoleukodystrophy:NINDS Adrenoleukodystrophy:United Leukodystrophy Foundation Genes and Disease: Adreno-Leukodystrophy:National Center for Biotechnology Information X-Linked Adrenoleukodystrophy :GeneReviews, University of Washington Alexander Disease Alexander Disease:NINDS Alexanders Disease:United Leukodystrophy Foundation Alexander Disease:GeneReviews, University of Washington Amyloidosis What is Amyloidosis?:Amyloidosis Support Network

65. Health Library - Lesch Nyhan Syndrome Your Health. Search. Lesch Nyhan Syndrome. leschnyhan syndrome is inheritedas an X-linked recessive genetic disorder that most often affects males. http://yourhealth.stlukesonline.org/Library/HealthGuide/IllnessConditions/topic.

66. UNSW Embryo- Neural System Development 2 leschnyhan syndrome (LNS). lesch-nyhan syndrome (LNS) was discovered over 30 yearsago as an inborn error of purine metabolism by Nyhan et al (J. Pediat. http://anatomy.med.unsw.edu.au/cbl/embryo/Notes/neuron2a.htm

UNSW Embryology Neural System Development Embryology Home Page Page WWW Page Links Abnormalities Australian Statistics 1981-1992 Lesch-Nyhan Syndrome OMIM Database ... WWW Links Developmental Abnormalities Lesch-Nyhan Syndrome (LNS) This text extract from Mining Co. Guide by Felix Frueh Lesch-Nyhan Syndrome (LNS) was discovered over 30 years ago as an inborn error of purine metabolism by Nyhan et al ( J. Pediat. 67: 257-263, 1965). Two years later, the biochemisrty has been resolved by Seegmiller et al. ( Science 1967 Mar 31;155(770):1682-4). LNS is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. Many mutations have been identified in a gene on the long arm of the X chromosome in patients with Lesch-Nyhan disease. These mutations lead to a virtually complete loss of function of the enzyme HPRT LNS is transmitted as and X-linked recessive trait. Female carriers do not show the symptoms. LNS is characterized by self-mutilating behaviors such as lip and finger biting and/or head banging. The symptoms of LNS usually appear between the ages of 3 and 6 months.The deficiency of HPRT activity leads to accumulation of phosphoribosylpyrophosphate. The disruption of this salvage pathway in the CNS may result in cells in the brain unable to synthesize required nucleotides.

67. Lesch-Nyhan Page Since 1996, inside the Association for Rare Diseases Mauro Baschirotto, a groupof Italian families with children affected by leschnyhan syndrome has been http://www.split.it/users/Lesch-Nyhan/Engl1.htm

Lesch-Nyhan Page ATTENTION PLEASE! We are moving: www.webst.it/lesch-nyhan Versione italiana Since 1996, inside the Association for Rare Diseases Mauro Baschirotto , a group of Italian families with children affected by Lesch-Nyhan Syndrome has been constituted. Actually there are 21 families with children affected by Lesch-Nyhan disease, who are from 1 to 39 years old. The group supports the research for a therapy through initiatives linking up with the Association for Rare Diseases. It promotes the information and experience exchange among families in order to manage this difficult disease in a better way. The group relies on BIRD for research and diagnosis. An important initiative that supports research is the edition of the book "An (Im)Possible Life" in which a mother tells the story of Michele, her child affected by LND. If you want to contact us, click on famlnd@webst.it The page is active from 1997 Last modified on 31th January 2002

68. Maxim Biotech Inc. Pair, 100 Reactions. HPR1001/1002, lesch-nyhan syndrome, Human HPRTExon 1 Oligo-Primer, Pair, 100 Reactions. HPR-1003/1004, Lesch-Nyhan http://www.maximbio.com/mbi21.htm

PCR Primer Amplification Kits page CatNo Description Unit Product Size CTR-1001/1002 Chlamydia trachomatis, Major Outer Membrane Protein (182bp) Oligo-Primer Pair 100 Reactions CTR-1003/1004 Chlamydia trachomatis, Major Outer Membrane Protein (129bp) Oligo-Primer Pair 100 Reactions CTR-1005/1006 Chlamydia trachomatis, CTR Cryptic Plasmid Oligo-Primer Pair 100 Reactions ECO-1001/1002 E. coli, Heat Labile Enterotoxin Oligo-Primer Pair 100 Reactions GNR-1001/1002 Neisseria gonorrhoea Oligo-Primer Pair 100 Reactions HPY-1001/1002 Helicobacter pylori, Cag A Oligo-Primer Pair 100 Reactions HPY-1003/1004 Helicobacter pylori, Species-Specific Antigen Oligo-Primer Pair 100 Reactions HPY-1005/1006 Helicobacter pylori, 16s rRNA Oligo-Primer Pair 100 Reactions HPY-1007/1008 Helicobacter pylori, 1.9 Kb Cloned Fragment Oligo-Primer

69. Health Library - Lesch Nyhan Syndrome Advanced Search. Lesch Nyhan Syndrome. leschnyhan syndrome is inherited asan X-linked recessive genetic disorder that most often affects males. http://www.stjudemedicalcenter.org/library/healthguide/IllnessConditions/topic.a

70. Lesch-Nyhan Syndrome List of Diseases -. lesch-nyhan syndrome. lesch-nyhan syndrome is a rare X-linkedrecessive disorder affecting approximately 1 out of 400,000 males. http://www.tylermedicalclinic.com/lesch-nyhan syndrome.htm

The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome is a rare X-linked recessive disorder affecting approximately 1 out of 400,000 males. It is characterized by excessive levels of uric acid in the blood, which may eventually lead to kidney damage. Its symptoms include muscle spasms that cause jerky movements, and self-injurious behavior such as compulsive biting of lips and tongue. The pathology for these symptoms is not clearly understood. Lesch-Nyhan Syndrome may also lead to physical and mental retardation as well as Nephrolithiasis , urinary tract stones and may impact brain development. Symptoms of Lesch-Nyhan Syndrome usually present themselves early in infancy. Sand-like crystals appear in diapers of infants. Infants affected with Lesch-Nyhan Syndrome may also seem unusually irritable and unable to lift his or her head at age 4-6 months. They may also display uncontrolled writhing motions and have poor motor development. There is currently no cure for Lesch-Nyhan Syndrome. Treatments include medication to lower uric acid levels in the blood. Patients must closely monitor their fluid intake to ensure that they are well hydrated. Parents with children inflicted with Lesch-Nyhan Syndrome must take special precautions in their household, such as padding any sharp corners, to prevent further injury when their children uncontrollably engage in self-destructive behavior.

71. Lesch Nyhan Syndrome leschnyhan syndrome PubMed Medline search on lesch-nyhan syndrome lesch-nyhan syndromefactsheet National Institute for Neurological Disorders and Stroke. http://www.ion.ucl.ac.uk/library/patient/lesch.htm

Lesch-Nyhan Syndrome Medline NLM definition : An X-linked disease caused by a deficiency of an enzyme of purine metabolism, hypoxanthine phosphoribosyltransferase, and characterized by physical and mental retardation, hyperuricemia, self-mutilation, and choreoathetosis. PubMed Medline search on Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome factsheet: National Institute for Neurological Disorders and Stroke Support Groups Purine Metabolic Patients Association (PUMPA) 71, Newcomen Street, London, SE1 1YT Tel/Fax: 020 7378 6079 Email: PUMPA2000@cs.com The charity seeks to improve the care of patients and helps families by advancing knowledge of purine metabolic disorders at every level amongst the public and medical profession. The website has information sheets on Lesch-Nyhan Syndrome, information on research, a discussion forum and publications.

72. Mathews/van Holde/Ahern 3rd Edition leschnyhan syndrome Hypoxanthine When the defect leads to the complete absenceof activity of HGPRT, lesch-nyhan syndrome is the result. The http://www.awlonline.com/mathews/ch22/c22lns.htm

Lesch-Nyhan Syndrome Hypoxanthine-guanine phosphoribosyltransferase ( HGPRT ) is a salvage pathway enzyme for purine metabolism (another is specific for adenine). When a defect in HGPRT reduces its activity to a low level, gout is the result. When the defect leads to the complete absence of activity of HGPRT, Lesch-Nyhan syndrome is the result. The gene for HGPRT is found on the X chromosome, so the disease is sex-linked. Patients have severe "gouty" arthritis and a dramatic malfunction of the nervous system, manifested as behavioral disorders, learning disabilities, and hostile or aggressive behavior, often self-directed. Individuals with Lesch-Nyhan syndrome rarely live beyond 20 years. See also: Excessive Uric Acid in Purine Degradation INTERNET LINK: Lesch-Nyhan Syndrome

73. Orthoguide.com Lesch-Nyhan Syndrome Search results for leschnyhan syndrome . NO MATCHES FOUND-Please select a differentkeyword or category OR Search AltaVista for 'lesch-nyhan syndrome'. http://www.orthoguide.com/ortho/Lesch-Nyhan_Syndrome.php3

Search results for "Lesch-Nyhan Syndrome" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Lesch-Nyhan Syndrome' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

74. Searchalot Directory For Lesch-Nyhan Syndrome Sponsored Links. Top Health Conditions and Diseases Genetic Disorders LeschNyhanSyndrome (5). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Lesc

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Lesch-Nyhan Syndrome Related Web Sites Lesch-Nyhan Disease National Registry - Includes FAQs, research, treatment, education, and support for LND. NINDS: Lesch-Nyhan Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke. Baylor College of Medicine: Genetics Research - Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. Drkoop.com: Medical Encyclopedia - A look at the causes and risks, prevention, symptoms, tests and treatment for lesch-nyhan syndrome. Mylifepath - Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading.

75. APA Books Lessons from leschnyhan syndrome - William L. Nyhan; Neuroimaging Studies in Lesch-NyhanSyndrome and Lesch-Nyhan Variants - James C. Harris, Dean F. Wong, HA http://www.apa.org/books/431673At.html

APA Members/ Affiliates: List: $39.95 Item # 431673A ISBN: Self-Injurious Behavior : Gene-Brain-Behavior Relationships Edited by Stephen R. Schroeder, PhD; Mary Lou Oster-Granite, PhD; and Travis Thompson, PhD March 2002 312 Pages Table of Contents Self-Injury: Knowing What We're Looking For - Travis Thompson and Mary Caruso Self-Injury and Comorbid Behaviors in Developmental, Neurological, Psychiatric, and Genetic Disorders - James W. Bodfish and Mark H. Lewis Epidemiology of Self-Injurious Behavior in Mental Retardation: A Review - Johannes Rojahn and Anna J. Esbensen Treatment: Current Standards of Care and Their Research Implications - Iser G. DeLeon, Vanessa Rodriguez-Catter, and Michael F. Cataldo Environmental Determinants of Self-Injurious Behavior - Brian A. Iwata, Eileen M. Roscoe, Jennifer R. Zarcone, and David M. Richman Functional Assessment and Self-Restraint - Rachel L. Freeman, Robert H. Horner, and Joe Reichle The Impact of Functional Assessment on the Treatment of Self-Injurious Behavior - Sung Woo Kahng, Brian A. Iwata, and Adam B. Lewin

76. Article : Radiological Quiz – Musculoskeletal ; Author : H Singh ; Co-Author(s) Radiological Diagnosis. leschnyhan syndrome. Gout is uncommon in children withlesch-nyhan syndrome and typically develops long after features are present. http://www.ijri.org/current_issue/quiz_295.htm

Quiz H Singh, V Maurya, V Khanna Ind J Radiol Imag 2002 12:2:295-296 Fig. 1: Radiograph both feet AP view Fig. 2: radiograph both ankles AP view Fig. 3: Sagittal Renal sonogram Radiological Diagnosis lesch-nyhan syndrome Radiographs of both ankles and feet revealed calcific intraosseous tophi in the lateral malleoli, base of the first metatarsal on the right and base of the middle phalanx of the third toe on the left associated with soft tissue swelling. These was associated overproduction of uric acid with nephrocalcinosis seen on ultrasound. The serum uric acid concentration is usually, but not always, elevated since the excess purines are rapidly excreted in the urine. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Crystals appear as an orange sandy material; calculi may be multiple tiny stones (gravel) or discrete large stones that are difficult to pass. The stones may cause hematuria and increase the risk for urinary tract infections. Stones may be the presenting feature of the disease, but are often not recognized for months or years. In this case there was deposition of uric acid crystals in the renal tubules (Fig. 3) resulting in medullary nephrocalcinosis[4]. Gout is uncommon in children with Lesch-Nyhan syndrome and typically develops long after features are present. The radiological changes are due to the deposition of monosodium urate in the soft tissues and bones. In chronic tophaceous gout, intra osseous tophi may form [5] and these are usually recognized as small well marginated subchondral cystic rarefactions with patchy calcification. The tophi can enlarge and destroy bone from within finally breaking out to produce erosions which tend to be periarticular and have characteristic overhanging margins as was seen in this case (Fig. 1).

77. Lesch-Nyhan Syndrome .lesch-nyhan syndrome affects 1 in 400,000 live births. Only male......leschnyhan syndrome. Definition lesch-nyhan syndrome lips. http://www.chclibrary.org/micromed/00054660.html

Main Search Index Definition Description Causes ... Resources Lesch-Nyhan Syndrome Definition Lesch-Nyhan syndrome is a severe hereditary disorder that leads to physical and mental retardation , and is often associated with self-destructive biting of the hands and lips. Description Lesch-Nyhan syndrome affects 1 in 400,000 live births. Only male children are affected, but women can be asymptomatic carriers and pass the mutation on to their offspring. Children with Lesch-Nyhan frequently injure themselves due to muscle spasms. They also show aggressiveness toward themselves and others. The most dramatic symptom of Lesch-Nyhan syndrome is the compulsive biting of the lips, tongue, and finger tips which can lead to serious injury and scarring. Over time, serious injury to the kidneys may develop as a result of the excessive uric acid in the blood. Lesch-Nyhan is caused by a mutation in the gene for the enzyme named hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT catalyzes a reaction which is necessary to prevent the buildup of uric acid. Mutation in the HPRT gene leads to an absence of enzyme activity which, in turn, leads to markedly elevated uric acid levels in the blood (hyperuricemia) with further consequences that include urinary tract stones and severe developmental impact on the brain. The disease known as gout is caused by a less damaging mutation in the same gene, leading to reducedbut not eliminatedHPRT activity.

78. Mioti: Medical Condition Condition Lesch Nyhan Syndrome. MEDLINEplus Lesch Nyhan Syndrome.MEDLINEplus NINDS leschnyhan syndrome Information Page. Information http://www.mioti.com/cat/condition/condition.asp?Cat=LeschNyhan

79. Related Web Sites leschnyhan syndrome at Baylor College of Medicine. NINDS lesch-nyhan syndromeInformation Page. Rare/Orphan Diseases Lesch-Nyhan at About.com. http://64.93.22.27/related.html

Related Web Sites Home About this Site Intro to LND FAQ ... Equipment These web sites all contain information on Lesch-Nyhan disease. For more in depth sources of articles, please see the eLibrary Baylor College of Medicine - Medical Genetics Laboratories Brain Waves : Research at Johns Hopkins The Family Village Lesch-Nyhan entry The Lesch-Nyhan Page (Association for Rare Diseases Mauro Baschirotto) To order the book An (Im)Possible Life , e-mail Stefano Cargiolli Lesch-Nyhan Registry at the Matheny School Excerpts from the Fall 1993 Matheny Bulletin issue focusing on the disease and on issues in providing care for persons with LND. Excellent description of the use and purpose of restraint as well as theory of behavior management. Lesch-Nyhan Syndrome at Baylor College of Medicine NINDS Lesch-Nyhan Syndrome Information Page Rare/Orphan Diseases: Lesch-Nyhan at About.com

80. SINDROME DE LESCH-NYHAN Translate this page diversos experimentos. REFERENCIAS Olson L, Houlihan D. A review ofbehavioral treatments used for lesch-nyhan syndrome. Behav Modif http://195.76.91.208/Monografia/Sindromes/S013_01.htm

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