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1. Sitosterolemia
An article about this uncommon genetic lipid disorder and the gene that is responsible for it.Category Health Conditions and Diseases sitosterolemia......WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipiddisorder sitosterolemia has been localized to a defined region on chromosome
http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm
WESTPORT, Sep 16 (Reuters) - The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on chromosome 2p21.The researchers reporting the finding suggest that identification of the gene could elucidate the mechanisms underlying cholesterol absorption, and lead to potential treatments for sitosterolemia itself. Patients with sitosterolemia "...appear to hyperabsorb both cholesterol and plant sterols from the intestine," Dr. Shailendra B. Patel of the University of Texas Southwestern Medical Center in Dallas and a multicenter team explain.They studied 10 families with the disorder in order to begin to identify the gene responsible for the disease. "The disease locus for sitosterolemia maps to 2p21, to an interval no larger than 15 cM, spanned by the microsatellite markers D2S1788 and D2S1352," Dr. Patel and associates report in the September 1st issue of The Journal of Clinical Investigation.Based on the different races of the 10 families and the lack of genetic heterogeneity, the authors suspect that "...there is only one locus that is responsible for causing this disease." Of the genes already mapped to this region, the researchers say, none is likely to be a candidate for the sitosterolemia gene "...based on their known and/or proposed functions."They hope that the eventual identification of the gene responsible for this disorder will help clarify the processes underlying cholesterol metabolism and sterol identification and elimination.

2. Press Release
A press release with a brief explanation of this disease.
http://www.musc.edu/frd/P200047ncs.htm
Identification of a gene responsible for regulation of body sterols Non-Confidential Summary Summary: Sitosterolemia is due to an autosomal recessive single gene defect that leads to net retention of dietary cholesterol and abnormal retention of non-cholesteral sterols in the body. This results in increased atherosclerotic heart disease. We have identified the gene defect. Our evidence is that many of our probands with sitosterolemia have this defect. It is our hypothesis that this gene and its protein product may be useful targets in developing pharmacological therapies aimed at alleviating cardiovascular disease. Objective: MUSC seeks licensees for screening compounds against this target. For additional information, contact: M. Pearce Gilbert
Program Manager for Technology Transfer
MUSC Foundation for Research Development
261 Calhoun Street, Suite 305
Charleston, SC 29425
T: 843-876-1900
F: 843-876-1905
E: gilbertp@musc.edu

3. EMedicine - Sitosterolemia : Article Excerpt By: Robert D Steiner, MD
to view the full topic text sitosterolemia. Background sitosterolemia is a rare inherited plant sterol storage disease.
http://www.emedicine.com/ped/byname/sitosterolemia.htm
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Excerpt from Sitosterolemia
Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia
Please click here to view the full topic text: Sitosterolemia
Background: Sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The original report detailed 2 sisters who presented with extensive tendon xanthomas but normal plasma cholesterol levels. Subsequently, they were found to have significantly elevated plasma levels of plant sterols in the form of beta-sitosterol, campesterol, and stigmasterol. Sitosterolemia is characterized by tendon and tuberous xanthomas and by a strong propensity towards premature coronary atherosclerosis. Significant increases of plant sterols (phytosterols) are found in blood and various tissues. Arteries and xanthomas in patients with sitosterolemia contain increased amounts of these sterols, particularly sitosterol, stigmasterol, campesterol, and their 5-alpha derivatives. The disease causes a significant increase in morbidity and mortality for those affected. Coronary heart disease and its inherent health consequences are the primary causes of illness and premature death.

4. EMedicine - Sitosterolemia : Article By Robert D Steiner, MD
sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease.Bhattacharyya and Connor first described this disease in 1974. sitosterolemia.
http://www.emedicine.com/ped/topic2110.htm
(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease
Sitosterolemia
Last Updated: October 31, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthor(s): Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Editor(s): Ian Krantz, MD

5. Sitosterolemia Resources On The Internet
Search millions of published articles for news on sitosterolemia. The eLibrary newspaper and magazine archive contains
http://www.healthcyclopedia.com/sitosterolemia.html

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Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (September 1, 1998) The Web Directory section is adapted from the Open Directory Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

6. Sitosterolemia From Pediatrics / Genetics And Metabolic Disease
sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. Backgroundsitosterolemia is a rare inherited plant sterol storage disease.
http://author.emedicine.com/ped/topic2110.htm
eMedicine Journal Pediatrics Genetics And Metabolic Disease
Sitosterolemia
Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia Author Information Introduction Clinical Differentials ... Bibliography
AUTHOR INFORMATION Section 1 of 11 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

7. Sitosterolemia
A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal
http://www.lastenendo.sci.fi/luku92/921.html
12.1 Familiaalinen hyperkolesterolemia, FH-tauti
M. Salo 16.8.96 Lastenendokrinologien syyskokous, Pirkkala
  • LDL-reseptorimutaatio
  • Kromosomi 19
  • AD
    homotsygootteja 1: 1 milj (Suomessa 3)
    heterotsygootteja 1: 500 (USA, UK, N, DK, J)
    (1:67 ja 1:100 E-Afrikan Ashk-juut ja afrikaan)
    Suomessa 10 000?
  • Mutaatiot: yli 150 kuvattu
    Suomessa:
    4 yleistä (75%)
    FH-Helsinki del ex 16-18 (Aalto-Setälä 1988)
    FH-North-Karelia del nt 925-931 (Koivisto 92)
    harvinaista (yht. 85%)
    FH-Oulu-1, FH-Oulu-2, FH-Jalasjärvi ym.
    2 lievää (FH-Espoo ja -Keuruu)
    mutaatio vaikuttaa taudinkuvaan
Kliininen kuva
S-Kol heterotsyg 6 - 15 mmol/l homotsyg 16 - 26 mmol/l HDL-K Trigly normaali Ksantoomiat, ksantelasmat Ateroskleroosi, angio+ Sepelvaltimotauti Homotsygootti: vanhin elänyt 57v, muutama äiti synnyttänyt
FH:n diagnoosi
A.
  • lapsen S-Kol 7.0, LDL-Kol 5.0 mmol/l ja
  • S-Trigly N ja sekundaariset hyperlipidemiat poissuljettu sekä jompikumpi B.
  • Yhdellä tai useammalla 1 sukulaisella FH
  • Yhdellä tai useammalla 1 sukulaisella tyyppi IIa hyperlipidemia, ksantoomia ja / tai varhainen SVT
  • 8. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption
    An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease.
    http://news.medscape.com/MedscapeWire/1998/09.98/medwire0901.scientists.html

    9. Sitosterolemia - Evaluation, Treatment And Research At The National Heart, Lung
    The National Heart, Lung and Blood Institute is actively seeking patients withsitosterolemia to receive free evaluation and/or treatment in our clinical
    http://patientrecruitment.nhlbi.nih.gov/Sitosterolemia.aspx
    Patient Recruitment Home
    Patient Recruitment - Sitosterolemia
    Research Studies Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235)
    Sitosterolemia Research Study
    Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235)
    If you have homozygous sitosterolemia, you are invited to participate in a study that will evaluate a new investigation drug that inhibits cholesterol absorption. Ezetimibe (SCH-58235) reduces plant sterol concentrations in patients with sitosterolemia with short term treatment. Ezetimibe was well tolerated in these patients. The long term safety and benefit is being evaluated in this one year study.
    Sitosterolemia should be suspected in children with hypercholesterolemia, tuberous and tendinous xanthomas, recurrent arthritis and an unusually good improvement in cholesterol levels due to diet and a bile acid resin binder.
    Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel, medical testing or the ezetimibe.
    For further information please contact our research coordinator (tel. 301-496-1500, e-mail:

    10. Lipid Disorders - Evaluation, Treatment And Research At The National Heart, Lung
    sitosterolemia Research Study. sitosterolemia Research Study Treatmentwith Ezetimibe (SCH-58235). If you have homozygous sitosterolemia
    http://patientrecruitment.nhlbi.nih.gov/LipidDisorders.aspx
    Patient Recruitment Home
    Patient Recruitment - Lipid Disorders
    Research Studies Apolipoprotein Deficiency Research Study - Diagnosis and Followup Protocol Hypoalphalipoproteinemia Research Study - Diagnosis and Followup Protocol Total Cholesterol <50 mg/dL Research Study - Diagnosis and Followup Protocol ... Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235)
    Apolipoprotein Deficiency Research Study
    Apolipoprotein Deficiency Research Study - Diagnosis and Followup Protocol
    If you have a mutation in a plasma apolipoprotein (the protein portion of a lipoprotein), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. Many apolipoprotein mutations have been described including apolipoprotein A-I (apoA-I), apolipoprotein A-II (apoA-II), apolipoprotein B (apoB), apolipoprotein C-I (apoC-I), apolipoprotein C-II (apoC-II), apolipoprotein C-III (apoC-III) and apolipoprotein E (apoE). A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings.
    Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel or medical testing.

    11. DIRECTORY.TERADEX.COM - Health/Fitness/Diseases/Nutrition And Metabolism Disorde
    sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it.
    http://directory.teradex.com/Health_Fitness/Diseases/Nutrition_and_Metabolism_Di
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    Search through: Entire site Sitosterolemia DIRECTORY Health/Fitness Diseases Nutrition and Metabolism Disorders ... Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it.
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    12. Smith-Lemli-Opitz Syndrome From Pediatrics / Genetics And Metabolic Disease
    A Trisomy 18 B SmithLemli-Opitz syndrome (SLOS) C Down syndrome D Phenylketonuria(PKU) E sitosterolemia The correct answer is B These are classic
    http://author.emedicine.com/PED/topic2117.htm
    eMedicine Journal Pediatrics Genetics And Metabolic Disease
    Smith-Lemli-Opitz Syndrome
    Synonyms, Key Words, and Related Terms: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR Author Information Introduction Clinical Differentials ... Bibliography
    AUTHOR INFORMATION Section 1 of 12 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Laura S Martin, MD , Director of Medical Genetics, Assistant Professor, Department of Pediatrics, Madigan Army Medical Center and University of Washington; Roderick F Hume, MD , Chief, Department of Clinical Investigation, Associate Professor, Department of Obstetrics and Gynecology, Madigan Army Medical Center Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Elaine H Zackai, MD

    13. Sitosterolemia : Meddie Health Search
    Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An articleabout a study of 10 families with sitosterolemia, a rare, recessively
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
    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 ... Cholesterol and Other Fats : Sitosterolemia ITEMS: LINKS: HOME ADD A LINK MODIFY A LINK ...
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    14. Human ABC-Transporters
    mutation. GDB. GenAtlas. Unigene. HomoloGene. 605459. sitosterolemia. NM 022436
    http://www.med.rug.nl/mdl/humanabc.htm
    Human A TP- B inding C assette Transporters
    The 'Human ATP-Binding Cassette Tranporters' page has moved! You will be redirected to the new location of the page automatically 5 seconds after load. If this redirect fails, you may go to the new page manually Last update: January 10th, 2003
    Comments to: Michael Müller

    15. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    SCH58235 (Ezetimibe) to Treat Homozygous sitosterolemia. Patients with homozygoussitosterolemia 10 years of age and older may be eligible for this study.
    http://www.clinicaltrials.gov/ct/gui/show/NCT00045812?order=14

    16. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Genetic Study of sitosterolemia. Purpose OBJECTIVES I. Identify thegenetic defect and fine map the gene that causes sitosterolemia.
    http://www.clinicaltrials.gov/ct/gui/show/NCT00004481?order=49

    17. Searchalot Directory For Sitosterolemia
    Related Web Sites. sitosterolemia A press release with a brief explanationof this disease. sitosterolemia - An article about this
    http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis
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    18. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met
    Conditions and Diseases Nutrition and Metabolism Disorders Cholesteroland Other Fats sitosterolemia . Uncover resources and
    http://www.1uphealth.com/links/cholesterol-and-other-fats-sitosterolemia.html
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    Sites Sitosterolemia
    A press release with a brief explanation of this disease.
    Sitosterolemia
    An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. (September 1, 1998) Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

    19. Entry Page
    Tian,H.; Graf,GA; Yu,L.; Grishin,NV; Schultz,J.; Kwiterovich,P.; Shan,B.; Barnes,R.;Hobbs,HH; Accumulation of dietary cholesterol in sitosterolemia caused by
    http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 1nof11KZa5v -e [SWISSNEW:'ABG8_

    20. Entry Page
    Bruckert,E.; Pandya,A.; Brewer,HB Jr.; Salen,G.; Dean,M.; Srivastava,AK; Patel,SB;Two genes that map to the STSL locus cause sitosterolemia genomic structure
    http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 4looS1KZafB -e [SWISSNEW:'ABG8_

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