61. Alpha-1 Antitrypsin Deficiency Center Of Excellence The Cleveland Clinic Foundation alpha1 antitrypsin deficiency Center of Excellence was developed in 2000 with the following goals http://cms.clevelandclinic.org/ccfpulmonary/body.cfm?id=207&oTopID=207

62. Alpha-1 Association Organization which attempts to identify those affected by alpha1-antitrypsin deficiency and to improve their quality of their lives through support, http://www.alpha1.org/

Alpha-1 Association's mission is to identify those affected by Alpha-1 Antitrypsin Deficiency and to improve the quality of their lives through support, education and advocacy. AlphaNet's mission is to improve the lives of those affected with Alpha-1 Antitrypsin Deficiency by creating and disseminating a wide range of expert disease management services, while providing significant contributions toward research for a cure. The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection and a cure for Alpha-1 Antitrypsin Deficiency.

63. Alpha-1-antitrypsin Deficiency In The Adult Literature review of late manifestations including hepatic decompensation and hepatocellular cancer in alpha1-antitrypsin deficiency. http://www.ikp.unibe.ch/lab2/A1AT.html

Late manifestations of a -antitrypsin deficiency Prof. Dr. med. J. Reichen For the molecular basis of liver injury in a -antitrypsin deficiency the reader is referred to a recent review (1) and my pathophysiology syllabus (in German) . The natural history in affected neonates and adolescents has been described by Sveger's landmark papers (2-4). In the pre-hepatitis C era, a small series from the Mayo clinic showed chronic liver disease to occur at age 58, 66 and 72 years in ZZ, SZ and MZ phenotypes; liver disease was advanced in most of them (5). In autopsy series of identified cases, cirrhosis and HCC were frequent, but these patients actually lived longer than patients with a -antitrypsin deficiency without liver disease (6). The risk of liver disease in PiZZ appears particularly high in men over age 50 (7). In a cohort of transplant candidates, heterozygotes PiZ carriers were overrepresented (9.2 % vs 2-4 % in the normal population (8). Similar data were found in a Swedish cohort of patients with chronic liver disease (7.6 vs 4. 8 %); of note was that in this study - where screening was performed with a monoclonal antibody specific for Z - only 50 % of affected patients had lowered a -antitrypsin levels (9). A similar conclusion was reached by Iezzoni et al. in a study on explants: PAS positive globules were found in 10 % of patients, but

64. Alpha-1-antitrypsin Deficiency alpha1-antitrypsin deficiency From Online Mendelian Inheritance in Man. alpha-1-antitrypsin deficiency National Association An association for support, http://cpmcnet.columbia.edu/dept/gi/alpha1AT.html

Alpha-1-antitrypsin Deficiency Alpha-1-antitrypsin Deficiency From Online Mendelian Inheritance in Man. Alpha-1-Antitrypsin Deficiency National Association An association for support, education, and research for individuals and their families affected by alpha-1-antitrypsin deficiency (A1AD). Diseases of the Liver Home Page Diseases of the Liver/Howard J. Worman, M. D./hjw14@columbia.edu

65. Antitrypsin Deficiency The major phenotype of alpha1-antitrypsin deficiency is destruction of Individuals with alpha-1-antitrypsin deficiency have at least a 20-fold http://www.people.virginia.edu/~rjh9u/antitryp.html

alpha 1-ANTITRYPSIN DEFICIENCY The serine proteases are a group of closely related proteolytic enzymes, with serine in their active site, which play a key role in coagulation and fibrinolysis and in kinin and complement activation. The activities of these enzymes are controlled at least in part by specific inhibitors known collectively as serine protease inhibitors, or serpins. The serine protease inhibitor found in highest concentration in plasma is alpha 1-antitrypsin, a 52-kDa glycoprotein, which accounts for 90% of the total alpha-1-globulin in plasma. Despite its name, the major function of alpha-1-antitrypsin is to inhibit the activity of elastase generated by neutrophils in the lung. The major phenotype of alpha-1-antitrypsin deficiency is destruction of pulmonary alveoli resulting in ehronie obstructive pulmonary disease or emphysema. The gene for alpha-1-antitrypsin is highly polymorphic, with more than 70 different alleles described in the European population. The different forms of alpha-1-antitrypsin, frequently designated as Pi for proteinase inhibitor, are commonly distinguished by differences in electrophoretic mobility. The most common allele in the European population is Pi M , with an allele frequency of 0.95; 90% of white Europeans have the

66. Virtual Hospital: The International Thoracic Teaching Resource: Chronic Obstruct alpha1-antitrypsin deficiency causes panacinar emphysema is responsible for 2% of alpha-1-antitrypsin deficiency icon gif Bullous change is not common. http://www.vh.org/adult/provider/radiology/ITTR/Alpha1/Alpha1.html

The International Thoracic Teaching Resource: Chronic Obstructive Lung Disease Alpha-1-antitrypsin deficiency Jeffrey R. Galvin, M.D.; Michael P. D'Alessandro, M.D.; Yasayuki Kurihara, M.D. Peer Review Status: Internally Peer Reviewed Clinical Sx: Alpha-1-antitrypsin deficiency causes panacinar emphysema is responsible for 2% of all cases of emphysema in the US. Typically the patients are middle age. Other clinical symptoms are neonatal cholestasis, hepatitis, liver cirrhosis, and ulcerative panniculitis. Etiology: Mendelian inheritance consistent with deficiency gene. The gene for Alpha-1-antitrypsin is present on chromosome 14 and expressed in the hepatocyte and in the mononuclear phagocyte. Two Parental alleles, Z type and S type, are codominantly expressed. Therefore phenotypes, null-null, ZZ, and SZ, are responsible for emphysema. Pathophysiology: Inhibited proteases of leukocytic origin probably are partly responsible for the damage to the lung in the absence of the major protease inhibitor. Pathology: Pan lobular emphysema Miscellaneous: Imaging: Radiographically, severe emphysematous changes are present predominantly in the lower lobes. There may be increased vascularity of the upper lobes. Evidence of pulmonary hypertension and right ventricular enlargement is often present. The plain chest x-ray may not be particularly abnormal in the early stages.

67. Alpha 1-antitrypsin Deficiency: Information From Answers.com Alpha 1antitrypsin deficiency Alpha 1-antitrypsin deficiency ( A1AD or alpha-1 ) is a genetic disorder caused by reduced levels of alpha. http://www.answers.com/topic/alpha-1-antitrypsin-deficiency

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Alpha 1-antitrypsin deficiency Wikipedia Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency or Alpha-1 ) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood . It can lead to emphysema and, in some cases, to liver disease. Signs and symptoms Symptoms of alpha-1 antitrypsin deficiency include shortness of breath , recurring respiratory infections, or obstructive asthma that does not respond to treatment. Individuals with alpha-1 may develop emphysema during their thirties or forties, without a history of significant smoking (although smoking greatly increases the risk for emphysema). A1AD also causes impaired liver function in some patients and may lead to cirrhosis and liver failure (15%). It is the leading cause of liver transplantation in newborns. Pathophysiology Please see alpha 1-antitrypsin for a discussion of the various genotypes and phenotypes associated with A1AD.

68. BBC - Health - Conditions - Alpha-1-antitrypsin Deficiency alpha1-antitrypsin deficiency. Dr Trisha Macnair Dr Rob Hicks. alpha-1-antitrypsin deficiency is an inherited condition where a person lacks a protein http://www.bbc.co.uk/health/conditions/alpha1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 8th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Alpha-1-antitrypsin deficiency Dr Trisha Macnair Dr Rob Hicks Alpha-1-antitrypsin deficiency is an inherited condition where a person lacks a protein known as alpha-1-antitrypsin. There may be low levels of the protein but it doesn't work properly. In this article Genetic factors Overinflated air sacs full of holes Cirrhosis of the liver Having a family A rare cause of common problems The same illness may have different causes, some common and some uncommon. Take emphysema, for example. It's usually smoking that causes this unpleasant lung disease, but the effects of working down a mine for many years may also be responsible. Liver cirrhosis is commonly the result of drinking too much alcohol, but it may also be caused by hepatitis infection. Then there are the rarer, but equally important causes of these diseases, such as alpha-1-antitrypsin deficiency (A1AD). Alpha-1-antitrypsin (A1A) is made in the liver. It's particularly important in the lung where it mops up another enzyme called neutrophil elastase. This enzyme normally digests damaged or ageing lung cells, foreign particles and bacteria, but has the potential to harm healthy lung tissue. In A1AD, neutrophil elastase cannot be neutralised and it's able to destroy healthy tissue.

69. Alpha-1-Antitrypsin Deficiency & Lung Disease alpha1-antitrypsin deficiency is an inherited disorder which usually Smoking makes the emphysema caused by alpha-1-antitrypsin deficiency much worse. http://www.nevdgp.org.au/geninf/lung_f/alpha-1-health.html

Alpha-1-antitrypsin deficiency is an inherited disorder which usually affects the lungs. The information presented here is intended to answer your questions and provide you with a better understanding of this rare condition. What is alpha-1-antitrypsin? Alpha-1-antitrypsin is a protein which is produced by the liver and enters the blood stream. Its main role is to protect the lungs from destruction by other proteins called enzymes. Enzymes are found in all parts of the body and are needed for digestion to ensure that chemical reactions in the body proceed normally. Enzymes are also involved in areas of inflammation and tissue injury where they occur as a result of cell damage. What is alpha-1-antitrypsin deficiency? Alpha-1-antitrypsin deficiency is present when there is less than the normal amount of this protein in the blood. It becomes important only when the concentration in the blood is less than 20% to 30% of what we would normally expect. When this deficiency occurs, the lung is poorly protected from destructive enzymes and loss of lung tissue occurs, leading to a condition called emphysema. Once in every 2500 people in Australia has severe alpha-1-antitrypsin deficiency (levels below 20% of normal). This translates to nearly 7000 Australians with alpha-1-antitrypsin deficiency.

70. NORD - National Organization For Rare Disorders, Inc. A deficiency of alpha1-antitrypsin results in unbalanced (relatively unopposed) rapid breakdown Organizations related to alpha-1-antitrypsin deficiency http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpha-1-Antit

71. Alpha-1-Antitrypsin Deficiency Alpha 1 - antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein http://my.webmd.com/hw/lung_disease/nord53.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Alpha-1-Antitrypsin Deficiency Important It is possible that the main title of the report Alpha-1-Antitrypsin Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms A1AT Deficiency AAT AAT Deficiency Antitrypsin Deficiency Cholestasis, Neonatal Familial Chronic Obstructive Lung Disease Familial Emphysema Hereditary Emphysema Homozygous Alpha-1-Antitrypsin Deficiency PI Pi Phenotype ZZ, Z- and Protease Inhibitor Deficiency Serum Protease Inhibitor Deficiency Alpha-1 Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

72. Alpha-1-Antitrypsin Deficiency alpha1-antitrypsin deficiency. blue line. Alpha 1 National Association 8120 alpha-1-antitrypsin deficiency, British Liver Trust Information Service http://www.kumc.edu/gec/support/alpha1.html

Alpha-1-Antitrypsin Deficiency Alpha 1 National Association 8120 Penn Avenue S., Suite 549 Minneapolis, MN 55431 Phone: (800) 521-3025 or 612-703-9979 Fax: 612-885-0133 Web site: http://www.alpha1.org/ E-mail: julie@alpha1.org Understanding pulmonary function testing (PFT) Respiratory System Liver Support Alphabeaters support group (Colorado) Alpha One Foundation 2937 SW 27th Avenue Suite 302 Miami, Florida 33133 Phone: (305) 567-9888 or toll free: 877-2 CURE A1 (877 228-7321) Fax: (305) 567-1317 Web site: http://www.alphaone.org/ E-mail: mserven@alphaone.org International Sites Spanish Asociación Española para el Déficit de Alfa 1-Antitripsina Apartado de Correos 96 47320 Tudela de Duero (Valladolid - España) UE Telephone/Fax: 983.682043 Web Page: http://www.alfa1.org United Kingdom Alpha-1 Support UK Alpha-1-antitrypsin deficiency British Liver Trust Information Service Also See: National and International Lay Advocacy Groups Liver conditions web sites Lung conditions web sites Liver and Billary Disease ... Alpha-1 Antitrypsin Deficiency Children's Liver Disease Foundation Lab tests of Liver Diseases Second Wind Lung Transplant Association American Lung Association Alpha-1 Antitrypsin , American Liver Foundation Chronic Pulmonary Disease United Network for Organ Sharing (UNOS) Emphysema Foundation For Our Right To Survive (EFFORTS) Alpha-1 proteinase inhibitor deficiency (alpha-one) National Jewish Medical and Research Center, Denver, Colorado

73. Alpha 1-antitrypsin Deficiency Alpha1 antitrypsin deficiency is an inherited condition. alpha1 antitrypsin is a protein that is made in the liver. http://digestive-disorders.health-cares.net/alpha1-antitrypsin-deficiency.php

74. CLiC - Cholestatic Liver Disease Consortium These five diseases are alpha1-antitrypsin (a-1AT) deficiency Alagille syndrome (AGS) Progressive familial intrahepatic cholestasis (PFIC) Bile acid http://rdcrn.epi.usf.edu/clic/learnmore/alpha1.htm

CLiC Cholestatic Liver Disease Consortium What is CLiC? Learn More Diseases We Study Glossary ... PFIC (Progressive Familial Intrahepatic Cholestasis) The Liver in Alpha-1 Antitrypsin Deficiency What is Alpha-1 Antitrypsin Deficiency (Alpha-1)? Alpha-1 Antitrypsin deficiency (Alpha-1) is an inherited disease that can cause liver problems in infants, children or adults and may cause lung problems in adults, particularly if they smoke cigarettes. In people with Alpha-1, large amounts of the abnormal alpha-1 antitrypsin (A1AT) protein are made in the liver and nearly 85% of this protein gets stuck in the liver. If the liver is not able to break down the abnormal protein, the liver gets damaged and scarred over time. Currently, there is no way to prevent the A1AT protein from getting stuck in the liver of a person with Alpha-1. Since not all people with Alpha-1 get liver disease, there must be some other things that contribute to the liver disease, but these are not currently known. The lack of A1AT in the blood allows the lungs to get damaged by cigarette smoke and air pollution, which usually shows up in adults with Alpha-1. What are symptoms of liver disease in Alpha-1?

75. ALF - LEARN ABOUT LUNG HEALTH alpha1-antitrypsin deficiency is an inherited disorder which usually affects the lungs. The information presented here is intended to answer commonly asked http://www.lungnet.org.au/Fact Sheets/alpha-1-health.html

Alpha-1-antitrypsin deficiency is an inherited disorder which usually affects the lungs. The information presented here is intended to answer your questions and provide you with a better understanding of this rare condition. What is alpha-1-antitrypsin? Alpha-1-antitrypsin is a protein which is produced by the liver and enters the blood stream. Its main role is to protect the lungs from destruction by other proteins called enzymes. Enzymes are found in all parts of the body and are needed for digestion to ensure that chemical reactions in the body proceed normally. Enzymes are also involved in areas of inflammation and tissue injury where they occur as a result of cell damage. What is alpha-1-antitrypsin deficiency? Alpha-1-antitrypsin deficiency is present when there is less than the normal amount of this protein in the blood. It becomes important only when the concentration in the blood is less than 20% to 30% of what we would normally expect. When this deficiency occurs, the lung is poorly protected from destructive enzymes and loss of lung tissue occurs, leading to a condition called emphysema. Once in every 2500 people in Australia has severe alpha-1-antitrypsin deficiency (levels below 20% of normal). This translates to nearly 7000 Australians with alpha-1-antitrypsin deficiency.

76. Liver Injury And Alpha-1-Antitrypsin Deficiency Liver Injury and alpha1-antitrypsin deficiency. Jeffrey H. Teckman, MD Keywords protein secretion, alpha1-antitrypsin, liver injury, http://research.medicine.wustl.edu/ocfr/Research.nsf/s/9A08904ED43321208625677D0

Liver Injury and Alpha-1-Antitrypsin Deficiency Jeffrey H. Teckman, M.D. DEPARTMENT OF Pediatrics Keywords: protein secretion, alpha1-antitrypsin, liver injury, protein processing The laboratory has investigated these processes using an in vitro system with cells obtained from the patients. This technique gives the unique opportunity to study other secretory and membrane bound proteins known to traverse the ER and the ER protein degradation pathway and investigate questions of how various proteins interact within the ER itself. The lab has also recently discovered the importance of the autophagic response in protecting the liver from damage in a1-AT deficiency. Further studies of autophagy in cell culture and genetically engineered mouse models are designed to better understand how many patients are protected from liver disease. Faculty Research by Subject: Aging Biochemistry and Biophysics Bone/Joint Health and Disease Cancer Cell Biology and Regulation Child Health Clinical Sciences Diabetes and Endocrinology Gastrointestinal Diseases Genetics and Genome Analysis Health Care Services and Policy Heart and Vascular Disease Imaging Immunology and Inflammation Infectious Diseases Kidney Disease Lung Disease Neuroscience Pharmacology Psychiatry and Behavioral Medicine Visual Sciences Faculty Research by Department: Anesthesiology Biostatistics Genetics Health Administration Internal Medicine Molecular Microbiology Neurological Surgery Neurology Occupational Therapy Orthopaedic Surgery Otolaryngology Pediatrics Physical Therapy

77. Alpha-1-Antitrypsin Deficiency alpha1-antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1-antitrypsin (A1AT) which is found in http://www.bchealthguide.org/kbase/nord/nord53.htm

var hwPrint=1;var hwDocHWID="nord53";var hwDocTitle="Alpha-1-Antitrypsin Deficiency";var hwRank="1";var hwSectionHWID="nord53-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Alpha-1-Antitrypsin Deficiency Important It is possible that the main title of the report Alpha-1-Antitrypsin Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms A1AT Deficiency AAT AAT Deficiency Antitrypsin Deficiency Cholestasis, Neonatal Familial Chronic Obstructive Lung Disease Familial Emphysema Hereditary Emphysema Homozygous Alpha-1-Antitrypsin Deficiency PI Pi Phenotype ZZ, Z- and Protease Inhibitor Deficiency Serum Protease Inhibitor Deficiency Alpha-1 Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 TDD: (914)997-4764 Email: Askus@marchofdimes.com

78. Hepatic Pathology The periportal red hyaline globules seen here with periodic acidSchiff (PAS) stain are characteristic for alpha-1-antitrypsin deficiency (a person with http://www-medlib.med.utah.edu/WebPath/LIVEHTML/LIVER052.html

The periportal red hyaline globules seen here with periodic acid-Schiff (PAS) stain are characteristic for alpha-1-antitrypsin deficiency (a person with homozygous pi-ZZ genotype) The globules are intrahepatic collections of alpha-1-antitrypsin that is not being excreted from the hepatocytes. This may eventually lead to a macronodular cirrhosis. These patients are also prone to develop panlobular emphysema of lungs.

79. UpToDate Extrapulmonary Manifestations Of Alpha-1-antitrypsin Deficiency INTRODUCTION — alpha1-antitrypsin (AAT) deficiency is an underrecognized disorder affecting the lung, liver, and/or skin. Sporadic reports also indicate http://patients.uptodate.com/topic.asp?file=copd/10562

80. UpToDate Treatment Of Alpha-1-antitrypsin Deficiency INTRODUCTION — Severe deficiency of alpha1-antitrypsin (AAT) is associated with early onset pulmonary emphysema and with several forms of liver disease, http://patients.uptodate.com/topic.asp?file=copd/11898

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 106    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20