41. Familial Hypercholesterolemia Selected medical images OMIM familial hypercholesterolemia. Homozygous familial hypercholesterolemia; Intertriginous xanthomas A http://www.gfmer.ch/Genetic_diseases/Familial_hypercholesterolemia/Familial_hype

Selected medical images OMIM Familial hypercholesterolemia Homozygous familial hypercholesterolemia Intertriginous xanthomas - A Marker of homozygous familial hypercholesterolemia Sources Indian Pediatrics Print this page Edited by Aldo Campana, August 13, 2003

42. Mathews/van Holde/Ahern 3rd Edition familial hypercholesterolemia (FH) familial hypercholesterolemia (FH) is a hereditary disease. INTERNET LINK familial hypercholesterolemia. http://www.aw-bc.com/mathews/ch18/c18fh.htm

Familial Hypercholesterolemia (FH) Familial Hypercholesterolemia FH ) is a hereditary disease. Individuals with FH typically have mutations affecting their LDL Receptor (see below). The result of these mutations is a higher than normal level of serum cholesterol. Individuals who are homozygous for the disease have very high levels of cholesterol in the blood and usually die of heart disease before age 20. People heterozygous for the disease have higher than normal cholesterol and are at high risk for heart attacks in their thirties and forties. Cultured fibroblasts from FH individuals synthesize cholesterol at abnormally high levels in the presence of LDLs, compared to normal cells. This activity is linked to the enzyme HMG-CoA reductase, the major regulatory enzyme of cholesterol biosynthesis, which is allosterically inactivated by cholesterol. Cells from FH individuals have an impaired ability to take up cholesterol, via receptor mediated endocytosis, thus requiring endogenous synthesis. LDL levels in the bloodstream remain high, due to lack of uptake. High LDL levels favor oxidation of the components of the LDL and ultimately formation of atherosclerotic plaques. Phenotypes of the LDL receptor mutations in FH individuals are as follows: 1. Reductions in amount of LDL receptor made;

43. Familial Hypercholesterolemia Definition Meaning Information Explanation familial hypercholesterolemia definition, meaning and explanation and more about familial hypercholesterolemia. familial hypercholesterolemia. http://www.free-definition.com/Familial-hypercholesterolemia.html

A B C D ... Contact Beta 0.71 powered by: akademie.de PHP PostgreSQL Google News about your search term Familial hypercholesterolemia A rare disease characterised by: Elevated serum cholesterol , most notably the LDL fraction; on electrophoresis, a hyperlipoproteinemia type II is recognised Premature cardiovascular disease , such as: Angina pectoris, leading to PTCA or CABG Myocardial infarction Transient ischemic attack s (TIA's) Cerebrovascular accident s/Strokes Peripheral artery disease (PAOD) A family history of premature atherosclerosis Physical signs (not always present): Tendon xanthoma s (thickening of tendon s due to accumulation of macrophage s filled with cholesterol Xanthalasma palpabrum (yellowish patches above the eyelids) Arcus senilis corneae, whitish discoloration of the iris Inhaltsverzeichnis 1 Forms 2 Causes 3 Pathophysiology 4 Diagnosis ... 7 Sources/further reading Forms There are two forms: Heterozygous FH (incidence 1:500-1:1,000, dependant on the population) Homozygous FH (incidence 1:1,000,000) Causes Both are caused by the same problem: a mutation in either the LDL receptor or the ApoB protein. There is one known ApoB defect (R3500Q) and a multitude of LDL receptor defects. The LDL-receptor gene is located on the short arm of chromosome Pathophysiology LDL cholesterol normally circulates in the body for 2.5 days, after which it is cleared by the

44. Familial Hypercholesterolemia familial hypercholesterolemia. Definition A dominantly inherited genetic condition that results in markedly elevated LDL (lowdensity http://www.healthscout.com/ency/article/000392.htm

Advertisement Search HealthScout Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Healthscout News 3D Interactive Human Atlas Health Videos Health Encyclopedia ... Drug Library Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury 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

45. Clinical Trial: Implitapide In Patients With Heterozygous Familial Hypercholeste Implitapide in Patients with Heterozygous familial hypercholesterolemia (HeFH) on Maximal Concurrent LipidLowering Therapy. This http://www.clinicaltrials.gov/ct/gui/show/NCT00079859?order=30

46. Clinical Trial: Implitapide In Patients With Homozygous Familial Hypercholestero Implitapide in Patients with Homozygous familial hypercholesterolemia (HoFH) on Maximal Concurrent LipidLowering Therapy. This study http://www.clinicaltrials.gov/ct/gui/show/NCT00079846?order=24

47. Familial Hypercholesterolemia familial hypercholesterolemia. Examinations Photographs Movies Links Home Search noJava Home. http://medgen.genetics.utah.edu/photographs/pages/familial_hypercholesterolemia.

familial hypercholesterolemia Examinations Photographs Movies Links ... noJava Home

48. Familial Hypercholesterolemia English / Spanish familial hypercholesterolemia. this condition. The incidence of familial hypercholesterolemia is 7 out of 1000 people. http://www.umm.edu/ency/article/000392.htm

49. :: Ez2Find :: Familial Hypercholesterolemia Guide familial hypercholesterolemia, Global Metasearch Any Language Guides, familial hypercholesterolemia. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Familial Hypercholesterolemia Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Familial Hypercholesterolemia ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Familial Hypercholesterolemia Related Categories Health: Conditions and Diseases: Nutrition and Metabolism Disorders Web Sites MedicineNet [Site Info] [Translate] [Open New Window] A brief article about familial hypercholesterolemia. Yahoo Health [Site Info] [Translate] [Open New Window] An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. URL: http://health.yahoo.com/health/dc/000392/0.html

50. Health - Conditions And Diseases - Genetic Disorders - Familial Top Health Conditions and Diseases Genetic Disorders familial hypercholesterolemia MedicineNet A brief article about familial hypercholesterolemia. http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Fami

Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Familial Hypercholesterolemia See also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders MedicineNet - A brief article about familial hypercholesterolemia. Yahoo Health - An overview of familial hypercholesterolemia including, symptoms, treatment and prevention.

51. Homozygous Familial Hypercholesterolemia Pubmed emedicine OMIM NORD Websearch Images Videos homozygous familial hypercholesterolemia. Printable version. FH fetus. http://www.humpath.com/article.php3?id_article=2366

52. Familial Hypercholesterolemia familial hypercholesterolemia. Alternative Names Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation. http://lebonheur.adam.com/pages/content.asp?genId=000392&proj=1&lang=en

53. Familial Hypercholesterolemia familial hypercholesterolemia. Definition A dominantly this condition. The incidence of familial hypercholesterolemia is 7 out of 1000 people. http://www.valleybaptist.net/ency/article/000392.htm

Disease Injury 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 myocardial infarctions ( 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, acute myocardial infarctions ( 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 lipids down to safer levels.

54. Disease - Familial Hypercholesterolemia - Hartford, Connecticut , Saint Francis Disease familial hypercholesterolemia - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in http://www.saintfranciscare.com/12154.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Familial hypercholesterolemia Xanthoma - close-up Xanthoma - close-up Xanthoma on the knee Coronary artery blockage 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 And Risk: 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

55. American Family Physician: Lovastatin In Adolescents With Familial Hypercholeste You are Here Articles American Family Physician May 15, 1999 Article. Lovastatin in Adolescents with familial hypercholesterolemia. http://www.findarticles.com/cf_dls/m3225/10_59/54594200/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles American Family Physician May 15, 1999 Content provided in partnership with Print friendly Tell a friend Find subscription deals Lovastatin in Adolescents with Familial Hypercholesterolemia American Family Physician May 15, 1999 by Grace Brooke Huffman The age at which lipid-lowering drug therapy should be started in patients with familial hypercholesterolemia and premature coronary disease is not well defined, although there is agreement that drug therapy should be started in such patients if a low-fat diet fails to reduce the low-density lipoprotein (LDL) cholesterol level to below 160 mg per dL (4.2 mmol per L). Pharmacologic intervention is also generally advocated in patients without a family history of premature coronary disease if the LDL level remains above 190 mg per dL (4.9 mmol per L). Bile-acid sequestrants, which have a relatively long history of use in children with familial hypercholesterolemia, are generally the drugs of choice, but these agents do not have a major effect on LDL levels. Stein and colleagues conducted a study to determine if a statin (specifically, lovastatin) is safe and effective in the treatment of adolescent males with heterozygous familial hypercholesterolemia. A total of 132 boys 10 to 17 years of age were enrolled in the double- blind, placebo-controlled study; 110 completed the 48-week study. In all of the boys, LDL levels (despite dietary measures) had measured at least 189 mg per dL (4.9 mmol per L). All of the subjects had a family history of one parent with similarly elevated LDL levels or of a parent who died as a result of coronary artery disease. Tanner stage was assessed at recruitment and at 24 and 48 weeks after study entry. Height, weight, lipid profile, liver function and diet were monitored periodically throughout the study. Dietary instruction was provided.

56. American Family Physician: Using Statins In Children With Familial Hypercholeste You are Here Articles American Family Physician Feb 1, 2003 Article. Using statins in children with familial hypercholesterolemia. http://www.findarticles.com/cf_dls/m3225/3_67/97132859/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles American Family Physician Feb 1, 2003 Content provided in partnership with Print friendly Tell a friend Find subscription deals Using statins in children with familial hypercholesterolemia - Tips from Other Journals American Family Physician Feb 1, 2003 by Sumi M. Sexton Children with heterozygous familial hypercholesterolemia (heFH) are at high risk for developing coronary heart disease. Currently the U.S. National Cholesterol Education Program recommends drug therapy (bile acid sequestrants) in children older than 10 years who have a low-density lipoprotein (LDL) cholesterol level that remains elevated after dietary therapy. De Jongh and associates conducted an international, multicenter, randomized, double-blind, placebo-controlled study of 173 patients to evaluate the efficacy of simvastatin in lowering LDL levels in a large cohort of boys and girls with heFH. The goal of the study was to investigate the safety and tolerability of simvastatin and its influence on growth and pubertal development. Girls and boys from 10 to 17 years of age who had LDL levels ranging from 158 to 398 mg per dL (4.1 to 10.3 mmol per L) and one parent with a confirmed diagnosis of heFH were included in the study. Persons with homozygous familial hypercholesterolemia and secondary hyperlipidemia were excluded. All subjects had diet therapy and placebo for four weeks before being randomized to treatment with placebo or simvastatin (starting with a daily dosage of 10 mg, which was increased to 20 mg and then to 40 mg). Cholesterol panels, liver function tests, adrenal/gonadal/pituitary hormones, Tanner stages, and menstrual cycles were assessed at regular intervals.

57. Using Statins In Children With Familial Hypercholesterolemia - February 1, 2003 Using Statins in Children with familial hypercholesterolemia. Persons with homozygous familial hypercholesterolemia and secondary hyperlipidemia were excluded. http://www.aafp.org/afp/20030201/tips/26.html

Advanced Search Tips from Other Journals Previous Next Using Statins in Children with Familial Hypercholesterolemia Children with heterozygous familial hypercholesterolemia (heFH) are at high risk for developing coronary heart disease. Currently the U.S. National Cholesterol Education Program recommends drug therapy (bile acid sequestrants) in children older than 10 years who have a low-density lipoprotein (LDL) cholesterol level that remains elevated after dietary therapy. De Jongh and associates conducted an international, multicenter, randomized, double-blind, placebo-controlled study of 173 patients to evaluate the efficacy of simvastatin in lowering LDL levels in a large cohort of boys and girls with heFH. The goal of the study was to investigate the safety and tolerability of simvastatin and its influence on growth and pubertal development. Girls and boys from 10 to 17 years of age who had LDL levels ranging from 158 to 398 mg per dL (4.1 to 10.3 mmol per L) and one parent with a confirmed diagnosis of heFH were included in the study. Persons with homozygous familial hypercholesterolemia and secondary hyperlipidemia were excluded. All subjects had diet therapy and placebo for four weeks before being randomized to treatment with placebo or simvastatin (starting with a daily dosage of 10 mg, which was increased to 20 mg and then to 40 mg). Cholesterol panels, liver function tests, adrenal/gonadal/pituitary hormones, Tanner stages, and menstrual cycles were assessed at regular intervals.

58. LDLR: Low Density Lipoprotein Receptor (familial Hypercholesterolemia) PARC LDLR low density lipoprotein receptor (familial hypercholesterolemia). COMMON PARC SNP DATA Chromosomal Location 19p13.3. Gene http://droog.gs.washington.edu/parc/data/ldlr/welcome.html

LDLR: low density lipoprotein receptor (familial hypercholesterolemia) COMMON PARC SNP DATA Chromosomal Location: 19p13.3 Gene-Specific Links: LocusLink (NCBI) GoldenPath (UCSC Genome Browser) PubMed Individual Genotypes Genotypes for each individual sample at each polymorphic site. SNP Sequence Context A multi-entry FASTA file containing each polymorphic site and 50 bp of flanking sequence both 5' and 3'. Each polymorphic position is listed according to the IUPAC ambiguity codes or the insertion allele at that site. SNP Allele Frequency Frequency of each allele at each polymorphic site. Allele frequencies are listed for each sample population and the combined samples. The last three columns list the heterozygosity for each polymorphic site (hz). Color FASTA Sequence The final reference sequence generated for this gene as a colored FASTA sequence in order to easily locate gene features. Variations are shown in red, exons are shown in blue, and protein translations are included in the coding regions. SITE SPECIFIC DATA SNP Locations Mapping of each SNP onto the gene structure. Each SNP can be listed as: - (noncoding), 5UT (5'UTR), 3UT (3'UTR). If a SNP occurs in a coding region its effect on the amino acid translation is shown. All translations are done from the Locus Link RefSeq curated mRNA sequence (Acc. No.: NM* or XM*) for each gene.

59. ThirdAge - Adam - Familial Hypercholesterolemia familial hypercholesterolemia. Definition A condition. The incidence of familial hypercholesterolemia is 7 out of 1000 people. Symptoms http://www.thirdage.com/health/adam/ency/article/000392.htm

Activities Games Health Horoscopes ... 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 myocardial infarctions ( 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, acute myocardial infarctions ( 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 lipids down to safer levels.

60. Familial Hypercholesterolemia Home Health Conditions and Diseases Genetic Disorders familial hypercholesterolemia (3) MedicineNet A brief article about familial hypercholesterolemia. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Fa

Directory Home Health Conditions and Diseases Genetic Disorders : Familial Hypercholesterolemia (3) See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Yahoo Health - An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. MedicineNet - A brief article about familial hypercholesterolemia. When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? - JAMA. 281;180-181, Article by Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links protein shake vitamins information Lexapro protein purification ... moisturizers The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

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