81. Dr. Rose's Peripheral Brain--HEMOCHROMATOSIS HepNet Pathogenesis of hemochromatosis in 2000Hereditary hemochromatosis is a common genetic disease in which excess iron Following the discovery of the hemochromatosis gene (HFE) in 1996, http://faculty.washington.edu/momus/PB/hemochro.htm

HEMOCHROMATOSIS I. Pathophysiology Iron overload causing tissue damage Can be hereditary (mostly Caucasian), in which case excess intestinal absorption of iron occurs In the hereditary form, clinical manifestations occur after years of excess absorption Women homozygous for the hereditary defect express the disease 1/10 as often as men, prob. b/c of menstrual loss of iron Ethanol abuse or hepatitis accelerates liver and pancreatic damage, prob. due to high serum levels of ferritin after hepatocyte injury A candidate gene has been identified: HFEsee below Or secondary, caused by Chronic anemias, e.g. homozygous beta-thal Multiple transfusions Porphyria cutanea tarda Portocaval shunt, etc. Iron accumulation-ubiquitous, as ferritin and hemosiderin Liver All Fe absorbed from intestine passes through liver; any Fe that exceeds binding capacity of transferrin is deposited Pancreas, heart, gonads, thyroid, hypothalamus, pituitary, and joints, causing dysfunction in all these organs

82. GeneReviews: HFE-Associated Hereditary Hemochromatosis Your browser does not support HTML frames so you must view HFEAssociated Hereditary hemochromatosis in a slightly less readable form. http://www.geneclinics.org/profiles/hemochromatosis/

Your browser does not support HTML frames so you must view HFE-Associated Hereditary Hemochromatosis in a slightly less readable form. Please follow this link to do so.

83. Liver Facts - Hemochromatosis News and InformationLearn About Hepatitis, Liver Cirrhosis, and Others-Liver, Cirhossis, Liver Failure. http://www.liverfacts.com/ms/ency/743/main.html

Health Encyclopedia Visit our medical encyclopedia and learn the definition, description, causes and risk factors, symptoms, diagnosis and treatment of various types of hepatitis. A F H L ... P Hemochromatosis Related Stories Molecular Missing Link Found for Genetic Disease Drug Could Improve Kidney Transplant New Clues to Pre-Diabetic Liver Condition Related Videos Laparoscopic Liver Surgery Shrinking Tumors Help For Hepatitis C Related Slides Hepatitis Liver Cirrhosis Liver Transplant Related Encyclopedia Arteriohepatic Dysplasia Fatty Liver Hemochromatosis Definition of Hemochromatosis ... Questions To Ask Your Doctor About Hemochromatosis Definition of Hemochromatosis Hemochromatosis is a metabolic disorder that results in excess deposits of iron in the liver, pancreas, and other iron-storing organs. Description of Hemochromatosis Iron overload that does not cause tissue damage is hemosiderosis; that which does is called hemochromatosis Hemosiderosis can occur in hemolytic anemia , or when iron has been taken for an extended time when it is not necessary. Unfortunately, some people have a tendency to absorb a relatively large amount of iron even if they do not need it. And since there is no way to get rid of it other than bleeding (via menstruation, injury or blood donations) their internal organs become iron overloaded and thereby cause complications such as liver damage.

84. Hereditary Hemochromatosis Your 68year-old Irish uncle was just diagnosed with hereditary hemochromatosis, a genetic disorder common among people of Northern European descent. http://kidshealth.org/parent/general/aches/hh.html

KidsHealth Parents General Health Your 68-year-old Irish uncle has diabetes and has also been bothered lately by chronic fatigue and a swollen stomach. After seeing his doctor, he still isn't feeling well. Finally, he visits a new doctor who diagnoses him with hereditary hemochromatosis, a genetic disorder common among people of Northern European descent. You've never heard of this condition before, and now your head is spinning with questions. Could other family members have it? What are the symptoms? Are you at risk? Should you be concerned for your children? It's time to learn more! What Is Hereditary Hemochromatosis? A genetic disease that causes the body to absorb and store too much iron , the condition gets its name from "hemo" for blood and "chroma" for color, referring to the characteristic bronze skin tone that iron overload can cause. Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is causing serious health problems. Iron is a trace mineral that plays a vital role in the body. Every red blood cell contains iron in its hemoglobin, the pigment that carries oxygen from the lungs to the tissues. We get iron from our diet, and normally the body absorbs approximately 10% of the iron found in foods. People with hemochromatosis absorb double that amount.

85. Iron Overload - Digestion And Digestive-related Information On MedicineNet.com What are the symptoms of hemochromatosis? Patients with early hemochromatosis have no symptoms, and are unaware of their condition. http://www.medicinenet.com/iron_overload/article.htm

document.writeln(''); MedicineNet Home Digestion Home Page > Iron Overload Search Tips Printer-Friendly Format FREE Newsletters Email to a Friend ... Next Hemochromatosis (Iron Overload) What is hemochromatosis? What are the symptoms of hemochromatosis? How is hemochromatosis diagnosed? How is hemochromatosis treated? ... Screening for hemochromatosis What is hemochromatosis? Hemochromatosis is an inherited disorder of excessive body accumulation of iron. It is common among the white population, affecting approximately 1 in 400 individuals of European ancestry. Hemochromatosis patients are believed to absorb excessive amounts of iron from the diet. Since the human body has limited ways of eliminating the absorbed iron, the iron accumulates over time in the liver, bone marrow, pancreas, skin, and testicles. This accumulation of iron in these organs causes them to function poorly. What are the symptoms of hemochromatosis? Patients with early hemochromatosis have no symptoms, and are unaware of their condition. The disease may then be discovered when elevated iron blood levels are noted by routine blood testing. In males, symptoms may not appear until 40-50 years of age. Iron deposits in the skin cause darkening of the skin. Since females lose iron through menstrual blood loss, they develop organ damage from iron accumulation 15- 20 years later than men on average. Iron deposits in the pituitary gland and testicles cause shrinkage of the testicles and impotence. Iron deposits in the pancreas cause a decrease in insulin production resulting in diabetes mellitus (please read the

86. Iron Overload -- Hemochromatosis - Mens Health: Health And Medical Information A Mens Health medical information on impotence, heart disease, prostate and colon cancers and hair loss. http://www.medicinenet.com/script/main/art.asp?articlekey=9906

87. Hemochromatosis hemochromatosis is a genetic disorder that affects the way the body handles iron. In a person with hemochromatosis, too much iron is absorbed. http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/672.html

hemochromatosis Alternative Names hereditary hemochromatosis, idiopathic hemochromatosis, bronze diabetes, iron overload disease Definition Hemochromatosis is a genetic disorder that affects the way the body handles iron. It causes iron to accumulate in the organs of affected people. The excessive iron causes the symptoms of the disorder. What is going on in the body? Everyone absorbs iron from the food they eat. In a person with hemochromatosis, too much iron is absorbed. The iron accumulates in organs such as the liver, heart, and pancreas. The overload of iron causes liver disease congestive heart failure , and diabetes What are the signs and symptoms of the disease? Hemochromatosis is characterized by: too much iron in the blood darkening of the skin cirrhosis of the liver. This condition involves changes in the liver in response to damage by excessive iron. liver cancer enlargement of the heart high blood sugar, caused by diabetes What are the causes and risks of the disease? Hemochromatosis is caused by a defective gene. The gene for hemocromatosis is recessive. This means a person must have two copies of this gene to have the disease. People with a single copy of the gene are called carriers. Carriers usually are not affected, although use of alcohol may cause symptoms to appear in them.

88. Porphyrias: Clinical Manifestations, Diagnosis And Treatment MEDSTUDENTS-METABOL A short review of hemochromatosis, giving atention mainly to its etiology, clinical manifestations, treatment and prognosis.Importance about early diagnosis http://www.medstudents.com.br/metdis/metdis4.htm

METABOLIC DISORDERS Medstudents' Homepage Hemochromatosis Definition Hemochromatosis is a disease due to increased iron absorption that leads to accumulation of iron in diverse tissues. Classification It can be hereditary (primary hemochromatosis) or secondary to chronic anemias as ß-thalassemias (ineffective erythropoiesis leading to increased erythrocitic destruction) or defects in hemoglobin synthesis ( as in porphyria cutanea tarda) ;multiple transfusion therapy ;or others less common conditions. Pathogenesis Iron absorption from the gut occurs normally in a rate of 1 mg per day. In hemochromatosis this absortion reaches the rate of 4 to 5 mg/d and there is a progressive accumulation to 15 to 40 grams of body iron (normal ~ 2 to 3 g). Thus, the disease develops in men above age 20 and postmenopausal women, due to stopping in iron loss in menses. The iron accumulates in every tissue of the body, but main clinical manifestations are secondary to iron deposition in: Liver, thyroid, hypothalamus, heart, pancreas, gonads and joints. Clinical Manifestations Many patients are asymptomatic. Common symptoms are fatigue, arthalgias, impotence, amenorrhea and palpitations. The most characteristical clinical manifestation occur in the liver because the portal circulation filters the iron initially absorbed fom the gut. Usually patients develop cirrhosis. Heart manifestations include arrythmias and disturbances of conduction. Skin adquires an diffuse hyperpigmentation mainly in scars, sun exposed and unexposed areas and genitalia. Arthropathy occurs in wrists, hips, knees and ankles. To distinguish this arthopathy from others, searching for initial involvement of second and third metacarpophalangeal joints is helpful. Hypogonadism hipogonadothrofic is secondary to iron deposition in hypophisary cells and leads to loss of libido, amenorrhea, impotence and body hair losing. Diabetes Mellitus results from pancreatic accomitment and the signs and symptons, as the treatment, do not differ from conventional diabetes.

89. Public Health Genetics Unit: Hereditary Haemochromatosis Hereditary hemochromatosis gene discovery and its implications for DNA testing for hereditary hemochromatosis Article from Genetic Drift, http://www.phgu.org.uk/info_database/diseases/haemochromatosis/haemochrom.html

Text-only sitemap Home About Newsletter ... Search Hereditary haemochromatosis Published guidelines and policy development Genetic haemochromatosis. Guidelines on diagnosis and therapy . British Society for Haematology, February 2000. These draft guidelines were compiled by J. Dooley and M. Worwood on behalf of the Clinical Task Force of the British Committee for Standards in Haematology. They have yet to be formally adopted. (For copies, contact The British Society for Haematology , 2 Carlton House Terrace, London SW1Y 5AF) Consensus statement. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. Burke, W. et al. (1998) JAMA 280, 172-178 ( Abstract ). This statement comes from an expert panel convened by the US Centres for Disease Control and Prevention (CDC) and the National Human Genome Research Institute. It concludes that population-based genetic screening for hereditary haemochromatosis is not justified at present, because there is insufficient information about the genotype-phenotype correlations in haemochromatosis, about the possible effects of other genes on development of disease, and about possible social dangers of genetic testing. On-line information Hereditary haemochromatosis - regularly updated on-line review from GeneClinics.

90. Hemochromatosis-Blood Diseases & Disorders Overview of hemochromatosis. The symptoms of hemochromatosis may resemble other blood disorders or medical problems. Always consult your physician for a http://www.umm.edu/blood/hemachro.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Donations / Banking Blood Diseases Blood Disorders... Anemias... ... Site Map Related Resources Within UMM Hematology Pediatric Oncology Translate using Google to Spanish German French Italian Portuguese Blood Diseases Hemochromatosis What is hemochromatosis? Hemochromatosis, also called iron overload disease, is the most common genetic disorder in the US. It is a metabolic disorder that causes increased absorption of iron, which is deposited in the body tissues and organs. The iron accumulates in the body where it may become toxic and cause damage. What causes hemochromatosis? The carrier frequency is estimated at one in 10 to one in 15, which means that one in 200 to one in 400 persons has hemochromatosis. Although hemochromatosis is an autosomal recessive disorder (which usually means men and women are equally affected), this condition is 10 times more common in men than women. The age of onset is also earlier in males than females. The reasons for these differences are thought to be due to iron loss through menses in females. In other words, females do not build up iron as quickly over time. What are the symptoms of hemochromatosis?

91. Hemochromatosis Detailed information on hemochromatosis, including causes, symptoms, diagnosis, and treatment. http://www.healthsystem.virginia.edu/uvahealth/adult_blood/hemachro.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics All About Cancer Blood Disorders Bone Disorders Breast Health Cancer Cardiovascular Disease Dermatology Diabetes Digestive Disorders Endocrinology Environmental Medicine Eye Care Glossary Gynecological Health Infectious Diseases Kidney Disease Men's Health Mental Health Nervous System Disorders Non-Trauma Emergency Oral Health Orthopaedics Otolaryngology Pathology Pediatrics, General Health Prostate Health Radiology Respiratory Disorders Skin Cancer Surgical Care Urology Women's Health UVa Health Topics A to Z FIND A DOCTOR Anemia Bleeding and Clotting Disorders Blood Cancer: Radiation Oncology ... CLINICAL TRIALS Search This Site Hemochromatosis What is hemochromatosis? Hemochromatosis, also called iron overload disease, is one of the most common genetic disorder in the US. It is a metabolic disorder that causes increased absorption of iron, which is deposited in the body tissues and organs. The iron accumulates in the body where it may become toxic and cause damage. What causes hemochromatosis?

92. Kimball Genetics - Hemochromatosis DNA Test A laboratory specializing in genetic testing and counseling for hemochromatosis, venous thrombosis, fragile X and other common disorders. http://www.kimballgenetics.com/tests-hemochrom.html

Hemochromatosis DNA Test Hereditary Hemochromatosis (HH) is the most common genetic disorder known, with a prevalence of 1/200 and a carrier frequency of 1/8 in Caucasians. This disorder involves excess iron absorption and storage in organs and leads to high morbidity and mortality if untreated. Historically, most cases have remained undiagnosed until late in the course of the disease when irreversible damage has already occurred. Early diagnosis allows for prevention of symptoms through treatment by phlebotomy. Two mutations associated with hemochromatosis have been discovered in the HFE gene. The major mutation, Cys282Tyr (also known as 845A) is present in the homozygous state in 85% of Caucasians with clinically diagnosed hemochromatosis. Most homozygotes (with two copies of the mutation) and some heterozygotes (with one copy of the mutation) develop iron overload and hemochromatosis. A second mutation, His63Asp (also known as 187G), appears to somewhat increase risk of iron overload. Although only a small percent of individuals (up to 6%) with this mutation develop hemochromatosis, DNA testing for hemochromatosis provides for effective early diagnosis and prevention. Indications for Hemochromatosis DNA Testing: Clinical diagnosis of hemochromatosis Unexplained elevated serum concentrations of liver enzymes Cirrhosis, liver failure, or hepatocellular carcinoma

93. What Is Hemochromatosis? - American Diabetes Association A singlegene disease that causes iron accumulation in the tissues of the body; diabetes is a primary complication if hemochromatosis goes untreated. http://www.diabetes.org/type-1-diabetes/hemochromatosis.jsp

94. UPMC Center For Hemochromatosis And Iron Overload Disorders The clinic provides all aspects of care for hemochromatosis and iron overload disorders, This work is done through the UPMC Center for hemochromatosis, http://www.upmc.edu/hemochromatosis/

UPMC Center for Hemochromatosis and Iron Overload Disorders About Iron Overload Disorders Information about the disorders and their causes, who is at risk, symptoms, and standard diagnosis and treatment methods Education and Support Descriptions of the classes for patients and professionals who deal with iron overload problems, information about active and forming support groups, and links to other Web sites that present information about hemochromatosis. Staff The professional background of the staff at the UPMC Center for Hemochromatosis and Iron Overload Disorders. Research A summary of the research projects conducted by staff. Contact Us How to make an appointment at the UPMC Center for Hemochromatosis and Iron Overload Disorders, call or e-mail the center and specific staff members, and find the center. Upcoming Special Events Saturday, Sept. 29, 2001 10 a.m. to 1 p.m. Free Hemochromatosis Seminar and Screening Conference Center, 11th Floor, UPMC Presbyterian Free parking and refreshments. Registration required.

95. HEMOCHROMATOSIS IN LORIES hemochromatosis IN LORIES. Margrethe Warden. hemochromatosis or Iron Storage Disease is a metabolic disorder that causes an unusually large amount of iron http://www.lorikeets.com/hemochromatosis.htm

HEMOCHROMATOSIS IN LORIES Margrethe Warden There have not been many studies conducted on avian hemochromatosis; therefore, much of what is commonly believed about the disorder is speculation. Most of the information relating to Iron Storage Disease and lories is anecdotal and as such is not always appropriate data for an actual scientific discussion. I began learning more about this condition in 1999 when it was discovered in sev eral of my own lories, specifically in five of my black lories ( Chalcopsitta atra). This disorder usually shows up in lories around five or six years of age; however, it has been discovered in much younger birds than that who have been fed a diet high in iron content. It is ultimately a fatal disorder that can take months, even years, to develop and become severe enough to result in death. The prevalence of hemochromatosis in lories is not well documented; therefore, it is not known if it has become a common problem in our captive population. The lack of documentation underscores the importance of performing a complete necropsy on every lory that dies. A liver stain can diagnose iron storage. Even when hemochromatosis does not appear to be the primary cause of death, it is important to conduct the histopathology to determine if the disorder was developing in the individual. Only through these tests and the compilation of information will the pervasiveness of this disease be documented and understood. Since most lory species are no longer being imported into this country, we must be diligent in maintaining the good health of the existing population.

96. Recognition And Management Of Hereditary Hemochromatosis - March 1, 2002 - Ameri Hereditary hemochromatosis is the most common inherited singlegene disorder in Hereditary hemochromatosis is associated with mutations in the HFE gene. http://www.aafp.org/afp/20020301/853.html

Advanced Search AAFP Home Page Journals Vol. 65/No. 5 (March 1, 2002) Recognition and Management of Hereditary Hemochromatosis DAVID J. BRANDHAGEN, M.D., VIRGIL F. FAIRBANKS, M.D., and WILLIAM BALDUS, M.D. Mayo Medical School, Rochester, Minnesota Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs. Previously, the classic description was combined diabetes mellitus, cutaneous hyperpigmentation and cirrhosis. Increasingly, however, hereditary hemochromatosis is being diagnosed at an earlier, less symptomatic stage. The diagnosis is based on a combination of clinical, laboratory and pathologic findings, including elevated serum transferrin saturation. Life expectancy is usually normal if phlebotomy is initiated before the development of cirrhosis or diabetes mellitus. Hereditary hemochromatosis is associated with mutations in the HFE gene. Between 60 and 93 percent of patients with the disorder are homozygous for a mutation designated C282Y. The

97. The Most Prevalent Inherited Disease - Hemochromatosis 1/9/00 Free twiceweekly natural health newsletter of top medical news on subjects including splenda, soy, sucralose, statins, insulin, aspartame, prevention and http://www.mercola.com/2000/jan/9/most_prevalent_inherited _disease.htm

Dr. Joseph Mercola Author of the Total Health Program Enter your e-mail address below to subscribe to my free newsletter: Previous Issues What This Means Health Rankings Essential Info Health Blog My Vision My Qualifications #1 Natural Health Site ... More... Health Resources Nutrition Plan Fewer Grains/Sugars More Omega-3 More Water ... January 9, 2000 Optimal Wellness Health News Olive Oil and Veggies Reduce Arthritis Risk Gallbladder Surgery Alternative Green Vegetables and Vitamin B12 Lower Cancer Risk Vegetables Lower Prostate Cancer Risk ... Print this Page document.write ( "E-mail to a Friend" ); document.write ( "" ); The Most Prevalent Inherited Disease - Hemochromatosis If asked to name the most prevalent inherited diseases, most people would probably suggest cystic fibrosis, sickle cell anemia or hemophilia. Few would even have heard of hereditary hemochromatosis. But this disease, characterized by the uptake of too much iron into a sufferer's body, affects one in every three hundred Caucasians, and one in nine is a carrier. Iron is crucial for the working of hemoglobin, the red pigment in blood that carries oxygen from the lungs to all other parts of the body. But too much iron can be as disabling as too little. In hereditary hemochromatosis deposits of iron appear in practically every major organ, particularly the liver, pancreas and heart, resulting in complete and widespread organ failure. It was first described in 1865. The majority of patients have a Celtic ancestor who lived 60 or 70 generations ago.

98. MoSt GeNe/Genetic Drift/DNA Testing For Hereditary Hemochromatosis Hereditary hemochromatosis (HH) is regarded as the most common genetic A DNA test for hemochromatosis has recently become available and will be a http://www.mostgene.org/gd/gdvol14c.htm

Previous Section This Issue- Table of Contents Next Section Molecular Genetic Testing in Mainstream Medicine Vol. 14: Spring, 1997 DNA Testing for Hereditary Hemochromatosis Introduction Key Points The HH gene and mutations Indications for DNA testing ... Illustrative case report Introduction Hereditary hemochromatosis (HH) is regarded as the most common genetic disorder in Caucasians, with an estimated prevalence of 1/200-1/400 (homozygotes) and a carrier frequency (heterozygotes) of 1/8-1/10. It is an excellent example of a common genetic disorder with high morbidity and mortality which is preventable if diagnosed early. A DNA test for hemochromatosis has recently become available and will be a valuable aid for early detection of this disorder. Hemochromatosis is characterized by increased iron absorption in the intestine, resulting in a gradual build-up of excess iron (iron overload). Most homozygotes develop symptoms in adulthood, although the age of onset has been as young as 2 years. Heterozygotes are usually asymptomatic. Early symptoms in homozygotes are multisystemic and often non-specific, including malaise, fatigue, impotence, abdominal pain, or joint pain. As iron storage increases, deposits occur in organs such as the liver, heart, and pancreas, leading to organ damage and dysfunction.

99. Hemochromatosis hemochromatosis is the excessive buildup of iron in the body, especially noted in the liver. It appears to me that hemochromatosis is the result of a copper http://www.ithyroid.com/hemochromatosis.htm

Hemochromatosis HEMOCHROMATOSIS Hemochromatosis is the excessive buildup of iron in the body, especially noted in the liver. It appears to me that hemochromatosis is the result of a copper deficiency. While there appears to be a hereditary form of the disease, there may also be a dietary form. While many people think that there is some genetic damage which causes the hereditary form, I think that it is most likely a genetic adaptation which enables the offspring of persons eating a high copper diet to increase copper excretion to maintain normal levels. When these offspring then have a diet low in copper, they develop a copper deficiency and this can lead to hemochromatosis for those eating a high iron diet (high red meat or fruit diet). It is my belief that persons with high iron from hemochromatosis should supplement with copper and reduce their high iron intake to get these two minerals balanced. Increased zinc might also be appropriate in individuals with adequate copper, since zinc will reduce iron levels also. The following study indicates that excessive vitamin C intake may be a contributing factor in hemochromatosis. Vitamin C increases iron absorption while at the same time it seems to have an effect in decreasing copper. This copper decreasing effect could be the direct result of increasing iron absorption or it could be an independent effect.

100. Hemochromatosis Upto-date hemochromatosis information. Effects of hemochromatosis - a brief overview of the causes and consequences of iron overload. http://www.genomelink.org/hemochromatosis/

Hemochromatosis Hemochromatosis is a hereditary disease and is sometimes called hereditary hemochromatosis, or HHC. Primary hemochromatosis is an autosomal disorder characterized by an accumulation of iron in parenchymal tissues including the liver. This increase is a consequence of increased absorption of iron that exceeds the body needs. Secondary hemochromotosis is also characeterized by an accumulation of iron. Clinical expression of the disease is twice as frequent in males as in females. 70% of patients develop symptoms between ages 40 and 60. Acne Allergy Antibiotics Antioxidants ... Wedding Overviews - Informational Links Hemochromatosis - full coverage. Hemochromatosis Facts - from CDC. Effects of Hemochromatosis - a brief overview of the causes and consequences of iron overload. Genetic Killer - Hemochromatosis - this article appeared in “The National Hibernian Digest”, November-December 2000. Hemochromatosis: A"Simple" Genetic Trait - by Richard D. Press, Oregon Health Sciences University. Hemochromatosis - FAQ's about Hemochromatosis.

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