21. Arch Intern Med Abstract Regression Of Carotid And Femoral Regression of Carotid and Femoral Artery IntimaMedia Thickness in familial hypercholesterolemia Treatment With Simvastatin http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. HUM-MOLGEN: Structural Insight Into Familial Hypercholesterolemia news section of the international communication forum in human genetics hummolgen. http://hum-molgen.org/NewsGen/05-2001/msg65.html

home genetic news bioinformatics biotechnology ... register for news alert Structural Insight Into Familial Hypercholesterolemia May, 28 2001 23:59 While cholesterol is required for normal health, too much of it can be deadly. Along with high blood pressure and cigarette smoking, it is one of the three major risk factors for heart disease. More than half of all adult Americans have a blood cholesterol level that is higher than 'desirable.' The problem with too much blood cholesterol is that over time it can build up in the walls of your arteries (a process called atherosclerosis) and can slow or block the flow of blood to your heart. Among many things, blood carries a constant supply of oxygen to the heart. Without oxygen, heart muscle weakens, resulting in chest pain, heart attacks, or even death. There are two types of cholesterol - 'good' and 'bad'. Actually these descriptions refer to the lipoproteins that carry cholesterol throughout the body. 'Good' cholesterol is associated with high density lipoproteins (HDLs) that remove excess cholesterol from the body by transporting it to the liver where it is disposed of. 'Bad' cholesterol is associated with low density lipoproteins (LDLs). Getting cholesterol into cells requires the LDL receptor. Normally, the LDL receptor keeps the cholesterol level in balance. If the receptor malfunctions then cholesterol levels can skyrocket. While most of us can control our blood cholesterol levels by following a diet that is low in saturated fat and cholesterol, a small percentage of people cannot. About 7 out of 1000 people suffer from familial hypercholesterolemia (FH). FH is an inherited genetic disease that is marked by high cholesterol levels and an increased risk of heart disease. Currently, there are more than 600 mutations in the LDL receptor gene that give rise to FH.

23. Familial Hypercholesterolemia - Wikipedia, The Free Encyclopedia In medicine, familial hypercholesterolemia is a rare disease characterised byvery high LDL cholesterol and early cardiovascular disease running in families http://en.wikipedia.org/wiki/Familial_hypercholesterolemia

Wikimedia needs your help in the final days of its fund drive. See our fundraising page Over US$225,000 has been donated since the drive began on 19 August. Thank you for your generosity! Familial hypercholesterolemia From Wikipedia, the free encyclopedia. In medicine familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. It is a genetic disorder Contents Signs and symptoms Types Causes Genetics ... edit Signs and symptoms Elevated serum cholesterol , most notably the LDL fraction ( VLDL and triglycerides are typically normal) on lipoprotein electrophoresis (rarely done), a hyperlipoproteinemia type II pattern is recognised Premature cardiovascular disease , such as: Angina pectoris , leading to PTCA or CABG Myocardial infarction Transient ischemic attacks (TIA's) Cerebrovascular accidents Strokes Peripheral artery disease (PAOD) A family history of premature atherosclerosis Physical signs (not always present): Tendon xanthomas (thickening of tendons due to accumulation of macrophages filled with cholesterol Xanthelasma palpabrum (yellowish patches above the eyelids) Arcus senilis corneae, whitish discoloration of the iris

24. Familial Hypercholesterolemia - Main Page familial hypercholesterolemia (FH) (OMIM 143890) is an autosomaldominant Studies of familial hypercholesterolemia molecular basis in St-Petersburg and http://www.iemrams.spb.ru:8100/english/molgen/fh-en/fh-main-e.htm

Familial hypercholesterolemia (FH) OMIM 143890 ) is an autosomal-dominant disorder of metabolism caused by lowering of the low-density lipoprotein (LDL) clearance from blood. The genetic causes of FH are the mutations in the specific LDL receptor gene. The FH patients are characterized by an increase of blood plasma cholesterol and especially of LDL cholesterol. This increase in LDL cholesterol leads to the development of atherosclerosis and premature myocardial infarction in FH patients. FH is one of the most common monogenic disorders in man with the prevalence 1:500 in most populations. The LDL receptor gene mutation spectrum is specific for different ethnic groups. The FH diagnostics is based both on clinical features of patients and on knowledge of mutations leading to the development of FH in each country. Clinical features of FH Treatment of FH LDL receptor structure and function Domain structure of the LDL receptor ... St.Petersburg FH working group Studies of familial hypercholesterolemia molecular basis in St-Petersburg and creation of this page were supported in part by grants from Russian Fund for Basic Research 00-04-48962, state programm "Leading scientific schools of Russia" 00-15-97931, national programm "Human Genome". You are kindly asked to send your proposals to improve this page and your questions to Mikhail Mandelshtam using the e-mail : michail@molgen.iem.ras.spb.ru

25. Treatment Of  Familial Hypercholesterolemia HDL, familial hypercholesterolemia Treatment of familial hypercholesterolemia.Only an experienced physician can recommend the specific FH treatment http://www.iemrams.spb.ru:8100/english/molgen/fh-en/treatm-e.htm

Treatment of familial hypercholesterolemia Only an experienced physician can recommend the specific FH treatment (See: Bibliography ). For rare patients with homozygous FH (prevalence 1:1000000) (See: Clinical features ) only lipoprotein (LDL) desorbtion plasmapheresis combined with rather high doses of statins (60-80 mg/day) can be the only effective method of treatment. In contrast, for the common (prevalence 1:500) heterozygous FH (See page: Clinical features ) the effective drug treatment was developed. The most effective drugs for treatment of heterozygous FH are statins - specific inhibitors of the cholesterol biosynthesis key enzyme, hydroxymethylglutaryl-coenzymeA-reductase (HMG-CoA-reductase). Usually 40-60 mg statin/day give positive results in heterozygous FH. Symvastatin (commercial name "Zocor", manufactured by "Merck Sharp and Dohme") is one of the most widely used statins. Atorvastatin (commercial names "Liprimar". "Lipitor") is one of the most effective statins. There is a number of other drugs of the same specificity with different commercial names. The doses of statins necessary for the treatment must be high enough and the treatment must be constant. The doses of statins necessary for the treatment vary depending of statin type and degree of hyperlipidemia in the patient. During the course of treatment by statins the level of the hepatic enzymes - transaminases should be checked. Provided myalgia develops, the level of phosphocreatinekinase in the blood should be controlled.

26. Familial Hypercholesterolemia: Definition And Much More From Answers.com familial hypercholesterolemia n. See type II familial hyperlipoproteinemia .See hypercholesterolemia (sense ) http://www.answers.com/topic/familial-hypercholesterolemia

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping familial hypercholesterolemia Medical familial hypercholesterolemia n. See type II familial hyperlipoproteinemia See hypercholesterolemia (sense ). WordNet Note: click on a word meaning below to see its connections and related words. The noun familial hypercholesterolemia has one meaning: Meaning #1 congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis Wikipedia familial hypercholesterolemia In medicine familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. It is a genetic disorder Signs and symptoms Elevated serum cholesterol , most notably the LDL fraction ( VLDL and triglycerides are typically normal) on lipoprotein electrophoresis (rarely done), a hyperlipoproteinemia type II pattern is recognised Premature cardiovascular disease , such as: Angina pectoris , leading to PTCA or CABG Myocardial infarction Transient ischemic attacks (TIA's) Cerebrovascular accidents Strokes Peripheral artery disease (PAOD) A family history of premature atherosclerosis Physical signs (not always present): Tendon xanthomas (thickening of tendons due to accumulation of macrophages filled with cholesterol Xanthalasma palpabrum (yellowish patches above the eyelids) Arcus senilis corneae, whitish discoloration of the iris

27. Familial Hypercholesterolemia familial hypercholesterolemia. OMIM Nï. 143890. The disease. FamilialHypercholesterolemia (FH) is a common autosomal dominant disease with a heterozygote http://www.ucy.ac.cy/~deltas/cyprusgmd/diseases/FH.htm

Familial Hypercholesterolemia OMIM Nï.: 143890 The disease The condition is developed when the receptor for the particle of LDL-cholesterol is defective, leading to inadequate uptake and internalization by the cells. This results in elevation of serum levels and predisposes to formation of atherosclerotic plaques and vascular obstruction. The gene The disease is caused by mutations in the gene encoding the low-density lipoprotein receptor (LDLR). It maps on chromosome 19p13.2. The LDL-receptor is a 160 KD cell surface transmembrane protein localized on the plasma membrane of hepatocytes. The gene for LDL receptor is more than 45 kb long and contains 18 exons, most of which correlate with multiple functional domains previously defined at the protein level. Of the 18 exons, 13 encode protein sequences that are homologous to sequences in other proteins such as EGF, clotting factors IX and X and others. Many groups worldwide have described more than 600 mutations of all kinds, affecting either the targeting of the protein to the membrane or the internalization of the receptor-ligand complex. For some mutations there is evidence suggesting genotype/phenotype correlation. Mutations identified in Cypriot patients Name Origin Nucleotide Change Location Effect on coding sequence Reference Trikomo Exon 8 Trikomo Exon 8 Central Highlands Exon 6 North West Exon 14 *They always occur together and are considered as one mutation.

28. Discovery Health :: Diseases & Conditions :: Familial Hypercholesterolemia familial hypercholesterolemia is an inherited disease that causes high A person with familial hypercholesterolemia inherits an abnormal gene for the http://health.discovery.com/encyclopedias/illnesses.html?article=27&page=1

29. Discovery Health :: Diseases & Conditions :: Familial Hypercholesterolemia familial hypercholesterolemia is an inherited disease that causes high cholesterol familial hypercholesterolemia. Written by Evan M. Sisson, Pharm. http://health.discovery.com/encyclopedias/illnesses.html?chrome=None&article=27&

30. SparkNotes: Lipids And Coronary Heart Disease: Familial Hypercholesterolemia familial hypercholesterolemia is an autosomal dominant disorder. Homozygousfamilial hypercholesterolemia occurs at a rate of less than 1 in 1000000. http://www.sparknotes.com/health/lipids/section6.rhtml

saveBookmark("", "", ""); Home Other Subjects Health Study Guides Lipids and Coronary Heart Disease : Familial Hypercholesterolemia - Navigate Here - Introduction Terms List Epidemiology Physiology of Lipid Metabolism Diagnosis Dietary Guidelines Drug Treatment of Hyperlipidemia Familial Hypercholesterolemia Bibliography Familial Hypercholesterolemia Familial hypercholesterolemia is an autosomal dominant disorder. It affects the gene that encodes a certain LDL cell surface receptor. This receptor is responsible for the hepatic uptake of LDL cholesterol. The milder, heterozygous form of the disease is more common, affecting approximately 1 in 500 persons. Homozygous familial hypercholesterolemia occurs at a rate of less than 1 in 1,000,000. The heterozygous form is characterized by marked (2-3x normal) elevations of LDL cholesterol and premature atherosclerosis that typically manifests itself in the fourth decade of life. Clinical clues to the presence of this disorder include a strong family history of early atherosclerotic cardiovascular disease, a family history of familial hypercholesterolemia, and physical evidence of lipid deposition, including tendon xanthomata, xanthelasma, and corneal arcus. The more severe homozygous phenotype is characterized by similar findings, but at an even earlier age. Patients may experience their first clinical events during the first or second decade of life. Aortic stenosis is also a characteristic abnormality that may be clinically apparent and hemodynamically significant before the age of 20.

31. Lipids Online Slides: Familial Hypercholesterolemia, Plant Sterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=familial hypercholesterolemia

32. Familial Hypercholesterolemia Medical Information familial hypercholesterolemia Information from Drugs.com. http://www.drugs.com/enc/familial_hypercholesterolemia.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Familial hypercholesterolemia Injury Disease Nutrition Poison ... Coronary artery blockage Familial hypercholesterolemia Definition A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age. Alternative Names Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Causes Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men. Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise, and the use of newer drugs can bring

33. BioMed Central | Full Text | Familial Hypercholesterolemia In St.-Petersburg: Th familial hypercholesterolemia is a human monogenic disease caused by The clinical diagnosis of familial hypercholesterolemia was based on the following http://www.biomedcentral.com/1471-2350/6/6

home journals A-Z subject areas advanced search ... Volume 6 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Zakharova FM ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia Faina M Zakharova Dorte Damgaard Michail Y Mandelshtam Valery I Golubkov Peter H Nissen Gitte G Nilsen Anette Stenderup Boris M Lipovetsky Vladimir O Konstantinov Alexander D Denisenko Vadim B Vasilyev and Ole Faergeman Department of Molecular Genetics, Institute of Experimental Medicine, St.-Petersburg, Russia Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark Department of Clinical Biochemistry, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark Institute of Human Brain, St.-Petersburg, Russia

34. BioMed Central | Abstract | Familial Hypercholesterolemia In St.-Petersburg: The familial hypercholesterolemia in St.Petersburg the known and novel mutations familial hypercholesterolemia is a human monogenic disease caused by http://www.biomedcentral.com/1471-2350/6/6/abstract

home journals A-Z subject areas advanced search ... Volume 6 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Zakharova FM ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia Faina M Zakharova Dorte Damgaard Michail Y Mandelshtam Valery I Golubkov Peter H Nissen Gitte G Nilsen Anette Stenderup Boris M Lipovetsky Vladimir O Konstantinov Alexander D Denisenko Vadim B Vasilyev and Ole Faergeman Department of Molecular Genetics, Institute of Experimental Medicine, St.-Petersburg, Russia Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark Department of Clinical Biochemistry, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark Institute of Human Brain, St.-Petersburg, Russia

35. NEJM -- Cutaneous Xanthomas In Homozygous Familial Hypercholesterolemia A baby boy was found to have familial hypercholesterolemia at the age of six His parents also had hypercholesterolemia. Seven and a half years later, http://content.nejm.org/cgi/content/short/332/17/1137

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 332:1137 April 27, 1995 Number 17 Next Cutaneous Xanthomas in Homozygous Familial Hypercholesterolemia Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF Add to Personal Archive Add to Citation Manager ... PubMed Citation Figure 1. View larger version [in this window] [in a new window] Figure 1. A baby boy was found to have familial hypercholesterolemia at the age of six months. His parents also had hypercholesterolemia. Seven and a half years later, studies of the activity of low-density lipoprotein (LDL) receptors in proliferating lymphocytes indicated that the parents were heterozygous and the child was homozygous for LDL-receptor deficiency. The child's serum cholesterol concentration ranged from 850 to 1000 mg per deciliter (22 to 26 mmol per liter), and he had cutaneous xanthomas on his knees (as shown), elbows, and interdigital folds. Because the hypercholesterolemia was refractory to treatment with lovastatin and cholestyramine, the Full Text of this Article HOME SEARCH CURRENT ISSUE ... HELP Comments and questions? Please

36. NEJM -- Homozygous Familial Hypercholesterolemia Images in Clinical Medicine from The New England Journal of Medicine Homozygousfamilial hypercholesterolemia. http://content.nejm.org/cgi/content/short/341/7/490

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 341:490 August 12, 1999 Number 7 Next Homozygous Familial Hypercholesterolemia Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF Add to Personal Archive Add to Citation Manager ... PubMed Citation Figure 1. View larger version [in this window] [in a new window] Figure 1. A 39-year-old man with homozygous familial hypercholesterolemia because of a G C mutation at the acceptor-splice site of intron 7 of the low-density lipoprotein (LDL) receptor had undergone coronary-artery bypass grafting at the age of 29 years and carotid endarterectomy at the ages of 38 and 39 years. His plasma LDL cholesterol level ranged from 463 to 500 mg per deciliter (12 to 13 mmol per liter). Twice-monthly treatment with selective LDL filtration, with the use of apheresis and a macromolecular exclusion filter (pore size, approximately 2 x daltons), was begun and was subsequently supplemented

37. Genomics|HuGENet|Reviews|Familial Hypercholesterolemail, CHD, APOB & LDLR familial hypercholesterolemia and Coronary Heart Disease Familialhypercholesterolemia (FH) is an autosomal disorder characterized by increased levels http://www.cdc.gov/genomics/hugenet/reviews/FH_CHD.htm

home reviews familial hypercholesterolemail, CHD APOB LDLR Archived: 4/26/2004 This article was published in Am J Epidemiol 2004 Sep 1; 160(5): 421-429 PubMed ID: * includes supplementary tables not published in AJE print version. Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review Melissa A. Austin , Carolyn M. Hutter , Ron L. Zimmern and Steve E. Humphries Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington , Seattle , WA Public Health Genetics Unit, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom Center for Genetics of Cardiovascular Disorders, British Heart Foundation Laboratories, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom. * Received for publication November 24, 2003 ; accepted for publication April 26, 2004 Abstract Introduction Genes and Gene Variants Disease ... Medical Literature Search ABSTRACT Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (

38. Pediatrics For Parents: Familial Hypercholesterolemia In Childhood: Therapeutica Full text of the article, familial hypercholesterolemia in childhood therapeuticaloptions from Pediatrics for Parents, a publication in the field of http://www.findarticles.com/p/articles/mi_m0816/is_7_21/ai_n13246890

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Pediatrics for Parents July 2004 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Hypercholesterolemia / Care and treatment Hypercholesterolemia / Statistics Hypercholesterolemia / Genetic aspects Children / Health aspects ... Atherosclerosis / Prevention Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Familial hypercholesterolemia in childhood: therapeutical options Pediatrics for Parents July, 2004 by Jessica Rodenburg Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it.

39. Pediatrics Treatment Of Familial Hypercholesterolemia In Children Full text of the article, Treatment of familial hypercholesterolemia in childrenand adolescents effect of lovastatin Canadian Lovastatin in Children http://www.findarticles.com/p/articles/mi_m0950/is_n5_v97/ai_18309856

40. Dr. Koop - Familial Hypercholesterolemia A dominantly inherited genetic condition that results in markedly elevated (lowdensitylipoprotein) cholesterol levels beginning at birth, and resulting in http://www.drkoop.com/ency/93/000392.html

Home Health Reference Familial hypercholesterolemia Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Familial hypercholesterolemia Injury Disease Nutrition Poison ... Prevention Familial hypercholesterolemia Definition: A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age. Alternative Names: Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Causes, incidence, and risk factors: Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men. Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise, and the use of newer drugs can bring

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