41. HUM-MOLGEN: Structural Insight Into Familial Hypercholesterolemia Structural Insight Into familial hypercholesterolemia, May, 28 2001 2359, About7 out of 1000 people suffer from familial hypercholesterolemia (FH). http://www.hum-molgen.de/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.

42. HUM-MOLGEN: Structural Insight Into Familial Hypercholesterolemia Author, Topic Structural Insight Into familial hypercholesterolemia. About7 out of 1000 people suffer from familial hypercholesterolemia (FH). http://www.hum-molgen.de/bb/Forum7/HTML/000391.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.

43. HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IS ASSOCIATED WITH LARGER LDL SIZE FO 157, Return to Table of Contents. HETEROZYGOUS familial hypercholesterolemia IS ASSOCIATEDWITH LARGER LDL SIZE FOR ANY GIVEN FASTING TRIGLYCERIDE CONCENTRATION. http://www.ccs.ca/society/congress2002/abstracts/abs/a157.htm

Return to Table of Contents HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IS ASSOCIATED WITH LARGER LDL SIZE FOR ANY GIVEN FASTING TRIGLYCERIDE CONCENTRATION I Lemieux, P Perron, G Tremblay, J Bergeron, P Couture, B Lamarche, D Gaudet, JP Després Québec OBJECTIVES: Familial hypercholesterolemia (FH) is a genetic disorder associated with raised plasma LDL-cholesterol levels and premature coronary heart disease (CHD). Although it has been suggested that LDL size could further increase the CHD risk resulting from an elevated LDL concentration, factors controlling LDL size in FH patients are not fully understood. Therefore, the objectives of the present study were to compare LDL size in FH vs nonFH patients and to study its relationship with known correlates of LDL size such as abdominal obesity (waist girth) and triglyceride (TG) levels. METHODS: After exclusion of patients with fasting TG and glucose levels greater than 4.5 mmol/L and 7.0 mmol/L respectively, a sample of 112 male patients (46.7 ± 12.6 years of age) with a clinical and/or molecular diagnosis of heterozygous FH was compared to a group of 305 nonFH men (42.3 ± 11.9 years). LDL size was assessed by 2-16% polyacrylamide gel electrophoresis. RESULTS: FH patients were characterized by the expected differences in their plasma lipid profile including substantially higher cholesterol (+65.8%), LDL-cholesterol (+88.9%) and apo B (+30.6%) levels than non FH men despite the fact that they had lower body mass index (-8.1%) and waist circumference (-5.4%) values than nonFH controls (p

44. Member Sign In History Discussion. ECHO Case of the Week Case 025 A 43-Year-Old Male Withfamilial hypercholesterolemia and Dyspnea from Medscape Cardiology http://www.medscape.com/viewarticle/406538

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45. Member Sign In Table of Contents, History Discussion. Case 025 A 43-Year-Old Male Withfamilial hypercholesterolemia and from Medscape Cardiology. Discussion. http://www.medscape.com/viewarticle/406538_2

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46. Diseases And Conditions -- Discovery Health -- Familial Hypercholesterolemia familial hypercholesterolemia is an inherited disease that causes high cholesterollevels. familial hypercholesterolemia By Evan M. Sisson, Pharm.D., MHA, CDE. http://health.discovery.com/diseasesandcond/encyclopedia/27.html

familial hypercholesterolemia By Evan M. Sisson, Pharm.D., MHA, CDE Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels. What is going on in the body? Normally, the liver regulates the amount of cholesterol or fat in the blood. It uses special docking sites, or receptors, to remove extra cholesterol. A person with familial hypercholesterolemia inherits an abnormal gene for the docking site from one or both parents. If an abnormal gene is inherited from one parent, the body makes only half of the usual number of docking sites. If the abnormal gene is inherited from both parents, the body makes no docking sites. In either case, the level of cholesterol gets too high in the blood. This can lead to heart attacks strokes , and other problems. What are the signs and symptoms of the condition? One of the main health issues with any cholesterol problem is that there are often no obvious symptoms of the condition before the development of coronary artery disease Because of the very high cholesterol levels, many people with this disease develop cholesterol deposits in the skin. These are often seen on the: Achilles tendons knuckles of the hand eyelids elbows What are the causes and risks of the condition?

47. Lipid Digestion And Lipoproteins Type II (familial hypercholesterolemia, FH), 4 classes of LDL receptor defect, reducedLDL clearance leads to hypercholesterolemia, resulting in athersclerosis http://www.indstate.edu/thcme/mwking/lipoproteins.html

Select From The Following for More Details Intestinal Uptake of Lipids Composition of Lipoprotein Complexes Classification of Apoproteins Chylomicrons ... Return to Medical Biochemistry Home Page Intestinal Uptake of Lipids In order for the body to make use of dietary lipids, they must first be absorbed from the small intestine. Since these molecules are oils, they are essentially insoluble in the aqueous environment of the intestine. The solubilization (or emulsification) of dietary lipids is thereforeaccomplished by means of bile salts, which are synthesized from cholesterol in the liver and then stored in the gallbladder; they are secreted following the ingestion of fat. The emulsification of dietary fats renders them accessible to pancreatic lipases (primarily lipase and phospholipase A ). These enzymes, secreted into the intestine from the pancreas, generate free fatty acids and a mixtures of mono- and diacylglycerols from dietary triacylglycerols. Pancreatic lipase degrades triacylglycerols at the 1 and 3 positions sequentially to generate 1,2-diacylglycerols and 2-acylglycerols. Phospholipids are degraded at the 2 position by pancreatic phospholipase A releasing a free fatty acid and the lysophospholipid. The products of pancreatic lipases then diffuse into the intestinal epithelial cells, where the re-synthesis of triacyglycerols occurs.

48. Familial Hypercholesterolemia : Meddie Health Search ITEMS LINKS familial hypercholesterolemia Updated information on treatment,prevention, diagnosis and support groups. (Rating 0.00 http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Fa

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 : Familial Hypercholesterolemia ITEMS: LINKS: Familial Hypercholesterolemia Updated information on treatment, prevention, diagnosis and support groups. (Rating: 0.00 Votes: 0) Rate It Medic-Planet A description of familial hypercholesterolemia, with a look at the causes, incidence, symptoms, treatment and outlook. (Rating: 0.00 Votes: 0) Rate It MedicineNet A brief article about familial hypercholesterolemia. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

49. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Purpose Homozygous familial hypercholesterolemia is a rare inherited diseaseof metabolism. Publications. Hoeg JM. familial hypercholesterolemia. http://www.clinicaltrials.gov/ct/gui/show/NCT00001204?order=16

50. FHC Pedigree familial hypercholesterolemia FHC. The pedigree to the right showsthe inheritance of FHC over three generations. The affected http://www.people.virginia.edu/~rjh9u/fhcped.html

Familial Hypercholesterolemia - FHC The pedigree to the right shows the inheritance of FHC over three generations. The affected gene which is located on chromosome 19 codes for the LDL receptor . The pedigree shows the following characteristics of an autosomal dominant mode of inheritance: direct transmission from an affected parent to an affected child (does not skip generations) transmission from affected male to affected male about a 1:1 ratio of affected:unaffected among progeny with one affected parent (7:5) Lecture on LDL (Univ. Illinois Chicago) This document maintained by Robert J. Huskey Last updated on July 1, 1996.

51. Inherited High Cholesterol What is familial hypercholesterolemia? familial hypercholesterolemia(FH) is an inherited disorder that causes very high cholesterol http://cholesterol.med.utah.edu/medped/page4.html

More About FH Home Page Who We Are What We Offer Related Sites ... For Medical Professionals What is Familial Hypercholesterolemia? Familial Hypercholesterolemia (FH) is an inherited disorder that causes very high cholesterol levels and greatly increases the chance of having a heart attack early in life. The heart attacks usually occur in men when they are 40-55 years old and in women when they are 50-65 years old. They can sometimes occur when people are in their mid-twenties. Even without other risk factors for heart attacks, and with the best of health habits, heart attacks will almost certainly occur if cholesterol levels are not lowered. We now have ways with diet and medication to normalize or a t least gre atly lower cholesterol levels in most persons with FH. We know from large research studies that reducing the cholesterol levels in persons with FH will prevent heart attacks and can actually reduce cholesterol deposits in the arteries. Therefore, it is extremely important that people with FH get treatment. There are three classes of medications used for the treatment of FH: 1.)The HMGCoA reductase inhibitors or "statins" (Baycol, Lescol, Lipitor, Mevacor, Pravachol, and Zocor) Mevacor, Zocor and Lipitor, used alone in maximum dosage , are more effective than any other available medication.

52. Familial Hypercholesterolemia: Genetic Mutations Of The LDL Receptors Table of Contents Previous Next Published by Lotus® Freelance Graphics®. http://www.umanitoba.ca/faculties/medicine/units/physiology/shiu/graduate/signal

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53. Familial Hypercholesterolemia: Genetic Mutations Of The LDL Receptors Published by Lotus® Freelance Graphics® http://www.umanitoba.ca/faculties/medicine/units/physiology/shiu/graduate/signal

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54. BioMed Central Abstract Statins In Homozygous Familial Report Statins in Homozygous familial hypercholesterolemia AD Marais MB, ChB, FCP(SA),DJ Blom MB, ChB, FCP(SA), and JC Firth MB, ChB, DCH Lipid Clinic and http://www.biomedcentral.com/1523-3804/4/19/abstract

55. Welcome To ENH.org - Health Encyclopedia: Familial Hypercholesterolemia familial hypercholesterolemia. this condition. The incidence of familialhypercholesterolemia is 7 out of 1000 people. Symptoms http://www.enh.org/Encyclopedia/ency/article/000392.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Familial hypercholesterolemia Disease Injury Nutrition Poison ... Z 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.

56. Aborn's Familial Medical Information When Should Patients With Heterozygous familial hypercholesterolemia Be Treated? REFERENCES.1. Goldstein JL, Brown MS. familial hypercholesterolemia. http://members.tripod.com/ABORN.Webring/Medical/Familial.html

When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD FULL TEXT BELOW: When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD The study by Stein et al4 provides much needed initial information and begins to address some of the concerns of physicians who are considering statins for children with HeFH. These findings represent a rigorous evaluation based on a 1-year placebo-controlled trial and give assurance that lovastatin will lower LDL-C with no apparent adverse effects on growth or hormonal and nutritional status, at least in adolescent boys. However, although this trial was longer and larger than other statin studies in children,14, 15 the duration of the study was still very short relative to the length of time (perhaps lifelong) that most children with FH would require drug treatment, and the ability of the study to address the possibility of adverse effects on long-term growth and development is limited. The safety evaluation in this study, although more ambitious than in prior studies, was not comprehensive, and some important safety issues, such as drug effects on cognitive function and psychosocial development, were not addressed at all. Although a 1-year study of 132 children has sufficient power to detect gross treatment differences in safety outcomes, more subtle differences may have gone unnoticed. The natural history data argue more strongly for early intervention in men than women, and data on the safety of treating adolescent girls and young women of childbearing age are not available. However, the authors do deserve credit for selecting relevant measures, including some that are quite difficult to study, such as sexual maturation.

57. Whitehead Press Releases 1996 - Hypercholesterolemia familial hypercholesterolemia, a genetic disease characterized by high levels ofcholesterol and early mortality, is caused by defects in the receptor for the http://www.wi.mit.edu/nap/1996/nap_press_96_hyperchol.html

whitehead home publications press releases 1996 biology week ... Research Summaries Protein Folding and Calcium Binding Defects Account for Errors in Familial Hypercholesterolemia August 28, 1996 Contacts: Nadia Halim, Seema Kumar Phone: 617.258.7270 E-mail: newsroom@wi.mit.edu All proteins are strings of amino acids that must fold into a unique shape to perform their function. "Knowing that a protein folding defect is at the root of familial hypercholesterolemia may allow scientists to design better therapies. It could allow one to screen for drugs or identify therapies that enable the defective receptor to fold properly," says Dr. Peter Kim of the Whitehead Institute for Biomedical Research and the Howard Hughes Medical Institute (HHMI). He and colleague Dr. Stephen Blacklow of the Whitehead Institute, Brigham and Women's Hospital and HHMI report their findings in the September issue of Nature Structural Biology. Protein folding defects have also been implicated in other human diseases, including cystic fibrosis, a-1-antitrypsin deficiency, retinitis pigmentosa, and Marfan's syndrome. "Our studies provide yet another example of how basic science research, such as studies of protein folding, ultimately help us understand human disease," says Dr. Kim.

58. Definition For:Familial Hypercholesterolemia familial hypercholesterolemia. Chapter complications. See Also FamilialPolyposis (Chapter 13); familial hypercholesterolemia (Chapter 10). http://www.kumc.edu/instruction/medicine/pathology/ed/keywords/kw_familial2.html

Familial hypercholesterolemia Chapter: 6 A common autosomal dominant disorder characterized by striking acceleration of atherosclerosis and its complications. See Also Familial Polyposis: (Chapter 13) Familial hypercholesterolemia: (Chapter 10)

59. Familial Hypercholesterolemia familial hypercholesterolemia. Absence/defect of LDL receptors in liver and/orextrahepatic tissues see handout feb.22. Elevation of LDL . ?mg/ml. http://arethusa.unh.edu/bchm752/ppthtml/mar2/Mar2/tsld010.htm

Familial hypercholesterolemia Absence/defect of LDL receptors in liver and/or extrahepatic tissues [see handout feb.22] Macrophage consume LDLs to become sponge cells Formation of atheroschlerotic plaque Previous slide Next slide Back to first slide View graphic version

60. Familial Hypercholesterolemia First Previous Next Last Index Text, Slide 10 of 27. http://arethusa.unh.edu/bchm752/ppthtml/mar2/Mar2/sld010.htm

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