41. 1Up Health > Lesch-Nyhan Syndrome > Causes, Incidence, And Risk Factors Of Lesch 1Up Health Diseases Conditions leschnyhan syndrome Causes, Incidence,and Risk Factors. lesch-nyhan syndrome Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/lesch_nyhan_syndrome_info.html

1Up Health Lesch-Nyhan syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Lesch-Nyhan syndrome Information Lesch-Nyhan syndrome Causes, Incidence, and Risk Factors Definition : Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism . This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes. Causes, Incidence, and Risk Factors Lesch-Nyhan syndrome is inherited as an X-linked trait , therefore the disease is seen only in males. It is characterized by increased blood and uric acid levels and by the absence of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGP). Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, renal dysfunction develops because of the excess uric acid levels.

42. 1Up Health > Lesch-Nyhan Syndrome Information 1Up Health Diseases Conditions leschnyhan syndrome. Search 1Up Health. Diseases Conditions . lesch-nyhan syndrome Information. Guide. Definition http://www.1uphealth.com/health/lesch_nyhan_syndrome.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Lesch-Nyhan syndrome Information Guide Definition : Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism . This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Skin lesion biopsy Uric acid Uric acid - urine Urine chemistry ... More More Topics Enzyme Genes Genetic counseling and prenatal diagnosis Genetics ... More Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

43. Lesch-Nyhan Syndrome: Deficiency Of HGPRT http://seqcore.brcf.med.umich.edu/mcb500/na/leschnyhan.html

44. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME Communication Digest, p. 10. RESEARCH BRIEF COGNITIVE ABILITIES OF PATIENTSWITH leschnyhan syndrome. Review by Steve Drake The label of http://soeweb.syr.edu/thefci/1-2dra.htm

This article originally appeared in Vol. 1 No. 2 (Feb., 1993) of the Facilitated Communication Digest, [p. 10]. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME Review by Steve Drake Journal of Autism and Developmental Disorders, 22 Nat Hentoff, in his article "The Awful Privacy of Baby Doe", referred to Lesch-Nyhan syndrome as an example of a condition so terrible in its outcome that no one believes that extraordinary means should be used to extend the life of affected individuals. The syndrome, which affects only males, is characterized by severe motor impairment and compulsive self-injurious behavior. Individuals with Lesch-Nyhan have been thought to suffer from severe intellectual impairment. The study Realizing that descriptions of individuals with Lesch-Nyhan found in the literature are often at odds with the traditional diagnosis of mental retardation, researchers designed an alternative method for making inferences about their subjects' intellectual ability. The research team designed a 176-item questionnaire asking parents for wide-ranging information about their children. 51 of these questions were believed to relate to certain areas of cognitive functioning. These were broken down as follows: alertness and orientation; affect; abstract thinking and insight; memory; deductive-inductive reasoning and comprehension; use of language and communication; scholastic ability; social skills; parenting strategies and factors affecting self-injury.

45. Purine Research Society leschnyhan syndrome. The most unusual feature of lesch-nyhan syndrome is compulsiveself-injury, including chewing of the tongue, lips, and fingers. http://www2.dgsys.com/~purine/

46. Health Ency.: Disease: Lesch-Nyhan Syndrome leschnyhan syndrome. Causes and Risks. lesch-nyhan syndrome is inheritedas an X-linked trait, therefore the disease is seen only in males. http://www.accessatlanta.com/shared/health/adam/ency/article/001655.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease L Lesch-Nyhan syndrome Overview Symptoms Treatment Prevention Definition: An inheritable disorder that affects purine metabolism . (Purine metabolism is involved in the body's metabolism of RNA and DNA, the proteins that make up your genetic blueprint.) Causes and Risks Lesch-Nyhan syndrome is inherited as an X-linked trait , therefore the disease is seen only in males. The disease is characterized by increased blood and urine uric acid levels and by the absence of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGP). Affected males have delayed motor development followed by bizarre sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips if not restrained. Children may also develop gout-like swelling in some of their joints. Ency. home Disease L Please read this Important notice Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our

47. Health Ency.: Disease: Lesch-Nyhan Syndrome Ency. home Disease L leschnyhan syndrome. lesch-nyhan syndrome. Treatment.No specific treatment exists for lesch-nyhan syndrome. http://www.accessatlanta.com/shared/health/adam/ency/article/001655trt.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease L Lesch-Nyhan syndrome Overview Symptoms Treatment Prevention Treatment No specific treatment exists for Lesch-Nyhan syndrome. Allopurinol has been tried and although it decreases the uric acid concentrations, it does not improve the neurological outcome. Recent advances in recombinant DNA techniques have allowed the gene responsible for the production of HGP to be cloned. Attempts will be made in the future to insert this gene into a patient's genetic material to determine if it will correct the metabolic defect. Prognosis The outcome is likely to be poor even with attempts to treat the condition. Complications Severe progressive debility is likely. Call Your Health Care Provider If: Call your health care provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family. Ency. home Disease L Please read this Important notice Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile

48. Lesch-Nyhan Syndrome : Meddie Health Search Baylor College of Medicine Genetics Research leschnyhan syndrome, some pointsabout the disease from Pragna I. Patel, Ph.D. (Rating 0.00 Votes 0) Rate It. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Le

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Lesch-Nyhan Syndrome ITEMS: LINKS: Baylor College of Medicine: Genetics Research Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. (Rating: 0.00 Votes: 0) Rate It Lesch-Nyhan Disease National Registry Includes FAQs, research, treatment, education, and support for LND. (Rating: 0.00 Votes: 0) Rate It Mylifepath Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading. (Rating: 0.00 Votes: 0) Rate It NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

49. Lesch-Nyhan Syndrome Information Page Diseases Database leschnyhan syndrome Information Page. 2 found. lesch-nyhan syndromeaka/or Hypoxanthine-guanine phosphoribosyltranferase deficiency http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=7415

50. Lesch-Nyhan Syndrome - General Practice Notebook medical information from General Practice Notebook. leschnyhan syndrome.lesch-nyhan syndrome is an X-linked recessive disorder that http://www.gpnotebook.co.uk/cache/-288358391.htm

Lesch-Nyhan syndrome Lesch-Nyhan syndrome is an X-linked recessive disorder that is characterised by an enzyme defect in purine metabolism (reduced hypoxanthine-guanine phosphoribosyl transferase) and excessive uric acid production and excretion. This syndrome is only fully expressed in males. Click here for more information...

51. JAX®Mice Database - Mouse/Human Gene Homologs: Lesch-Nyhan Syndrome Search Criteria Area is Mouse/Human Gene Homologs leschnyhan syndrome .JAX®Mice Strains. Stock Number, Strain Name (link to Data http://jaxmice.jax.org/jaxmicedb/html/model_1014.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Lesch-Nyhan syndrome" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply 129S8/SvEv@J- c Hprt b-m2 Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. (1 stocks) New Strains Under Development (See informational text following listing of strains) How to Register Interest Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form. View a Data Sheet for New Strains Under Development Select the strain name to link to the strain data sheet. Stock Number Strain Name (link to Data Sheet) Reference Under Development for Cryopreservation Repository. Hprt Ordway JM. Cell 1997; 91:753-63. (1 stocks) New Strains Under Development Receive periodic updates on the status of the colony UNDER DEVELOPMENT Obtain advance notification of strain availability and opportunity to order prior to the strain being published as available Provide input affecting speed and quantity of availability The Jackson Laboratory serves as a worldwide distributor and national repository for common and rare strains of inbred mice and mice carrying spontaneous mutations or induced mutations ( i.e.

52. ClinicalTrials.gov - Linking Patients To Medical Research: Results Search results for leschnyhan syndrome ALL-FIELDS are shown below. Show alltrials, including those no longer recruiting patients. 1 study was found. http://www.clinicaltrials.gov/search/term=Lesch-Nyhan Syndrome

Home Search Browse Resources ... About Search results for Lesch-Nyhan Syndrome [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 1 study was found. Completed Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Condition: Lesch-Nyhan Syndrome U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Freedom of Information Act ... Accessibility

53. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for NINDS leschnyhan syndrome InformationPage ALL-FIELDS. Modify Your Search. lesch-nyhan syndrome ALL-FIELDS, TryIt! http://www.clinicaltrials.gov/search/term=NINDS Lesch-Nyhan Syndrome Information

54. Lesch-Nyhan Syndrome leschnyhan syndrome. Arthur Boykin, Kara Jursak, Elizabeth Gay. Theseverity of lesch-nyhan syndrome makes carrier detection welcome. http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/cd44.htm

55. Lesch-Nyhan Syndrome leschnyhan syndrome. It is hard to imagine a parent receiving a more devastatingdiagnosis for his or her child than lesch-nyhan syndrome. http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/cd51.htm

56. Lesch-Nyhan Syndrome leschnyhan syndrome. Lesch-Nyan syndrome is an inherited neurological disorderthat afflicts males. lesch-nyhan syndrome What is lesch-nyhan syndrome? http://jcl.client.web-health.com/web-health/topics/GeneralHealth/generalhealthsu

57. Scientific Program - Orthopaedic Aspects Of Lesch-Nyhan Syndrome Orthopaedic Aspects of leschnyhan syndrome. Paper No. 130. Friday February23, 1996 127 PM. The authors reviewed seven lesch-nyhan syndrome (LNS). http://www.aaos.org/wordhtml/anmeet96/sciprog/130.htm

American Academy of Orthopaedic Surgeons 1996 Annual Meeting - Scientific Program Orthopaedic Aspects of Lesch-Nyhan Syndrome Paper No. 130 Friday February 23, 1996 1:27 PM Congress Center Ballroom Paul D. Sponseller, MD, Baltimore, MD Jim Choi, MD , Worcester, MA Mian Azhar, MD, Baltimore, MD The authors reviewed seven Lesch-Nyhan Syndrome (LNS). All had developmental delay beginning after six months. Neuromuscular hip dysplasia was the most common problem. It was unilateral in three patients, bilateral in two and absent in two. One patient, untreated, developed painful arthrosis. All others underwent muscle lengthening and osteotomies. Four out of five operated hips had satisfactory results. Fractures of the proximal femur occurred in two patients. Contractures were mild. Scoliosis was mild in three but severe in one. Auto amputation of digits was seen in one patient. All patients were dependent sitters. Moderator: Colin F. Moseley, MD, Los Angeles, CA PEDIATRICS 1:34 PM Discussion of Papers 129 and 130 Daniel R. Cooperman, MD, Cleveland, OH

58. Lesch-nyhan00.html leschnyhan syndrome,. Preliminary Remarks. lesch-nyhan syndrome LHS,or infantile self-mutilation, is comparatively rare condition http://www.indiana.edu/~pietsch/lesch-nyhan00.html

LESCH-NYHAN SYNDROME, Preliminary Remarks Lesch-Nyhan syndrome [LHS] , or infantile self-mutilation, is comparatively rare condition in which infant boys are prone to severe self-mutilation (e.g. chewing off their lips and fingers). The syndrome is a manifestation of a recessive, X-linked error of metabolism an enzyme deficiency of purine metabolism. In more recent years, L-H, has become the subject of both laboratory and clinical investigations. What follows are the hyperlinks to the results of searches of MEDLINE conducted at Indiana University, Bloomington, Indiana. The items were compiled by SilverPlatter and are presented with their generous cooperation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information go to the ShuffleBrain main menu web contact: pietsch@indiana.edu

59. Hyder Jinnah, MD, PhD The laboratory and clinical studies are funded by the National Institutes ofHealth and the leschnyhan syndrome Children’s Research Foundation. http://www.neuro.jhmi.edu/profiles/Jinnah.html

16-Sep-2002 Hyder Jinnah, MD, PhD Dr. Jinnah is an Assistant Professor of Neurology. He specializes in Movement Disorders, including Parkinsonism, tremor, ataxia, dystonia, tics, restless legs syndrome, chorea, myoclonus, and others. He has a special interest in movement disorders of young people, and maintains active research programs related to dystonia and Lesch-Nyhan disease. The focus of these programs is to develop a better understanding of the brain processes underlying these two conditions via basic anatomical, biochemical, and physiological studies. He is also involved in clinical trials of potentially promising new medications. The laboratory and clinical studies are funded by the National Institutes of Health and the Lesch-Nyhan Syndrome Children’s Research Foundation. Dr. Jinnah sees patients with movement disorders in the Johns Hopkins Outpatient Center on Wednesdays from 8:00 AM until 12:00 PM. He also provides botulinum toxin treatments on Fridays from 8:00 AM until 12:00 PM. Appointments can be scheduled via his secretary, Sharan Taylor, at 410-614-6551. CURRENT ADDRESS The Johns Hopkins Hospital Department of Neurology Meyer 6-181 600 N. Wolfe Street

60. Smoking Affects Aneurysms Syndrome, and that is very real indeed. leschnyhan syndrome is quiterare, but this orphan disease has long had a home at Hopkins. http://www.neuro.jhmi.edu/Brainwaves/LNS.html

I n The Cobra Event , best-selling author Richard Preston writes of bioterrorists who unleash a deadly disease that drives people to mutilate themselves. So bizarre is the disorder that many readers assume that like the rest of the story, it's the stuff of fiction. In fact, the disease the terrorists develop resembles Lesch-Nyhan Syndrome , and that is very real indeed. L esch-Nyhan Syndrome is quite rare, but this orphan disease has long had a home at Hopkins. It was first described here in 1964 when doctors Michael Lesch and William Nyhan saw two brothers with uncontrollable urges to bite their lips, fingers, tongue, arms and shoulders. Now, neurologist Hyder A. Jinnah, M.D., Ph.D. , is working towards understanding just what goes wrong in the brain to cause this profoundly devastating pediatric disease. L esch-Nyhan Syndrome is caused by mutations in a single gene on the X chromosome. The mutations cause a deficiency of an enzyme known as HPRT, leading to the over-production of uric acid and low levels of dopamine, an important chemical messenger in a region of the brain responsible for movement. Patients have near-constant, twisting movements resembling cerebral palsy. T he hallmark symptom, self-injurious behavior, occurs in nearly all patients and is made worse by stress. Although most of those with the condition are cognitively impaired, they are very much aware of their predicament. Patients tell Jinnah they don't know why they hurt themselves. "My finger just goes into my mouth, and my mouth won't stop biting my finger," they will say. Patients must be restrained with protective devices. "It seems inhumane," Jinnah says, "but the kids learn that it's better and eventually prefer restraints over their freedom."

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