61. Alpha-1-Antitrypsin Deficiency (AAT) Alpha 1antitrypsin deficiency (A1AT). Alpha 1-antitrypsin is a bloodprotein that diffuses into tissue spaces to protect tissues http://www.rnceus.com/ld/ldalpha.html

Alpha 1-Antitrypsin Deficiency (A1AT) Alpha 1-antitrypsin is a blood protein that diffuses into tissue spaces to protect tissues from being harmed by enzymes released from cells when they are injured and inflamed. Alpha 1-antitrypsin deficiency is an inherited condition characterized by abnormally low levels of this important protective blood protein. Although the deficiency is frequently associated with lung disease in adults, the disease also affects liver cells. Liver involvement is more common in children than in adults. Occurring in approximately 1 of each 1600 live births, A1AT deficiency is the most common genetic cause of liver disease in children. Liver disease occurs in approximately 10% of infants born with a severe form of the deficiency. Some adults with a severe or intermediate form of A1AT deficiency also develop cirrhosis or liver cancer. Treatment options include A1AT replacement, and liver transplants for children with severe A1AT deficiency to replace abnormal liver cells that produce a mutant form of A1AT. Gene therapy is also being studied as a form of treatment. This link takes you to the website of the Alpha 1 Association.

62. Alpha-1-antitrypsin Deficiency In The Adult Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screeningof 200-000 infants. Liver cell dysplasia in alpha-1-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

63. Alpha-1-Antitrypsin Deficiency Also See National and International Lay Advocacy Groups; Understanding Alpha1Antitrypsin deficiency, National Heart, Lung, and Blood Institute (NHLBI), NIH; 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/main.htm 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 Understanding Alpha-1 Antitrypsin Deficiency , National Heart, Lung, and Blood Institute (NHLBI), NIH Liver conditions web sites Lung conditions web sites Liver and Billary Disease American Association for Study of Liver Diseases ... 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) Transplant Recipient's International Org. Inc.- TRIO

64. NORD - National Organization For Rare Disorders, Inc. alpha1-antitrypsin deficiency. Copyright 1985, 1988, 1990, 1991, 1993, 1996,1997, 1998, 1999, 2001, 2002 Synonyms of alpha-1-antitrypsin deficiency http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpha-1-Antit

65. Alpha-1-Antitrypsin Deficiency Alpha 1antitrypsin deficiency deaths in the United States from 1979-1991. Alpha-1antitrypsin deficiency and splenic artery aneurysm rupture an association? http://www.thedoctorsdoctor.com/diseases2/a1at_deficiency.htm

66. ALPHA-1 - ANTITRYPSIN DEFICIENCY alpha1 - antitrypsin deficiency is a hereditary disease that maylead to hepatitis and cirrhosis. It is the most common genetic http://www.gastro.com/html/liverdisease/antitrypsin_deficiency.shtml

Alpha-1 - antitrypsin deficiency is a hereditary disease that may lead to hepatitis and cirrhosis. It is the most common genetic cause of liver disease in children. Adults are also affected and may have lung involvement with emphysema as well as liver disease. The protein alpha-1 - antitrypsin is a substance made in the liver. It plays an important role preventing the breakdown of enzymes in various organs of the body. A child must inherit the tendency from both parents to develop the disease, alpha-1 -antitrypsin deficiency. The incidence of the disease in the United States is approximately 1:2000 live births. Fortunately, for reasons that are not understood, only 10-20 percent of the babies born with the deficiency will have liver disease. Decreased levels of the serum protein, alpha-1 - antitrypsin, lead to liver damage with scarring and abnormal liver function. The disease most often appears in the newborn period with jaundice, swelling of the abdomen, and poor feeding. It may also appear in late childhood or adulthood and be detected because of fatigue, poor appetite, swelling of the abdomen and legs or abnormal liver tests.

67. GenID - Alpha-1-Antitrypsin Up to 25% of the children with total lack of alpha1-antitrypsin (homozygous PiZ PiZis by far the most frequent of the deficiency alleles with clinical http://www.aid-diagnostika.com/GenID/gen_antitrypsin_e.htm

Faktor V-Leiden Alpha-1-Antitrypsin HLA-B*27 HLA-DRB1 Shared epitope Alpha-1-Antitrypsin Reverse hybridisation assay for the determination of the point mutations PiZ and PiS in the human gene for alpha-1-antitrypsin Alpha-1-Antitrypsin (Pi) is a protease inhibitor, the lack of which is associated with pulmonary and hepatic diseases. The Pi gene is located on the long distal arm of the Chromosome14. With an incidence of 1:1600 the lack of alpha-1-antitrypsin is one of the most frequent hereditary diseases. It is transmitted recessively. The pathogenesis is still unclear, since not all carriers manifest the illness. The results of investigations with twin pairs suggest an influence of exogeneous factors. Up to 25% of the children with total lack of alpha-1-antitrypsin (homozygous PiZ mutation) develop a cirrhosis of the liver, while about 75% of all adults concerned develop obstructive lung diseases. PiZ is by far the most frequent of the deficiency alleles with clinical significance. The also frequent PiS allele seems to be relevant only in combination with the PiZ allele. Carriers of PiS alone normally do not get ill.

68. AID Alpha-1-Antitrypsin Translate this page sind unter Verwendung von insgesamt 8 DNA-Sonden die alpha-1-antitrypsin-MangelallelePiZ Literatur Eriksson, SG Liver disease in a 1 -antitrypsin deficiency. http://www.aid-diagnostika.com/deutsch/kits/GenID/gen_antitrypsin_d.htm

69. CLF : Alpha1 Antitrypsin Deficiency People who have only one gene for alpha1-antitrypsin deficiency donot have the disease, but they are carriers of the deficiency. http://www.liver.ca/english/liverdisease/antitrypsin.html

CLF Regional Offices Find a Location BC/Yukon Alberta Saskatchewan Manitoba GTA S.W. Ontario Central Ontario S.E. Ontario Quebec Atlantic Can. ALPHA1 ANTITRYPSIN DEFICIENCY What is Alpha1 antitrypsin? The enzyme trypsin is a substance in the body that is able to degrade protein. This enzyme normally performs valuable and healthy functions such as the breakdown of protein in foods. The activities of trypsin must be strictly controlled however, or it can potentially also attack normal tissues in the body causing damage. In order to control the work of trypsin and protect the body's tissues against damage, the liver produces another substance called alpha-1-antitrypsin. What is Alpha1 antitrypsin deficiency? Alpha1 antitrypsin deficiency is an inherited condition occurring in approximately one in 25,000 live births. In this condition, the alpha1 antitrypsin which is produced by the body is abnormal with no protective activity and is not released in sufficient amount from the liver. As a consequence, the trypsin in the body not only breaks down proteins in foods, but also attacks various body tissues. This can lead to liver disease in young children (and occasionally in middle age) and/or lung disease in young adults. What causes Alpha1 antitrypsin deficiency?

70. Alpha-1-antitrypsin Deficiency (PiZ) Clinical Studies With Title alpha1-antitrypsin deficiency (PiZ) Clinical studies with special regardto hepatic and vasculitic disorders. Keywords alpha-1-antitrypsin deficiency. http://eprints.lub.lu.se/archive/00009765/

71. Health Library - Alpha-1-Antitrypsin Deficiency prevention. alpha1-antitrypsin deficiency. Synonyms Disease; Familial Emphysema;Hereditary Emphysema; Homozygous alpha-1-antitrypsin deficiency; PI; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

72. Alpha-1-Antitrypsin Deficiency - Www.ezboard.com Author, Comment. spiderqueen noreen Registered User Posts 1 (9/26/02 24906pm) Reply ezSupporter, alpha1-antitrypsin deficiency Hi, I'm an alpha. http://beta.ezboard.com/fpublicshowcase66798frm27.showMessage?topicID=412.topic

73. Serine Proteases Examples alpha1-antitrypsin deficiency. More. alpha-1-antitrypsin deficiencycan also lead to liver damage. alpha-1-antitrypsin is synthesized in the liver. http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/S/Serine_Proteases.html

Index to this page Serine Proteases Digestive Enzymes Clotting Factors Complement Factors ... Chicken Ovalbumin Serine Proteases The serine proteases are a family of enzymes that cut certain peptide bonds in other proteins. This activity depends on a set of amino acid residues in the active site of the enzyme - one of which is always a serine (thus accounting for their name). In mammals, serine proteases perform many important functions, especially in digestion blood clotting , and the complement system Digestive Enzymes Three protein-digesting enzymes secreted by the pancreas are serine proteases [ Link chymotrypsin trypsin elastase These three share closely-similar structures ( tertiary as well as primary ). In fact, their active serine residue is at the same position ( Ser-195 ) in all three. Despite their similarities, they have different substrate specificities; that is, they cleave different peptide bonds during protein digestion. [ More Clotting Factors Several activated clotting factors are serine proteases, including Factor 10 (X) Factor 11 (XI) Thrombin Plasmin Complement Factors Several proteins involved in the complement cascade are serine proteases, including

74. BBC Health - Features - Alpha-1-antitrypsin Deficiency alpha1-antitrypsin deficiency By Dr Rob Hicks A rare cause of common problems Inheritedfrom both parents Over-inflated air sacs full of holes Cirrhosis of http://www.bbc.co.uk/health/features/alpha1_antitrypsin.shtml

CATEGORIES TV RADIO COMMUNICATE ... INDEX SEARCH SUNDAY 30th March 2003 Text only BBC Homepage Health Homepage Ask the Doctor ... Help Like this page? Send it to a friend! Feature Alpha-1-antitrypsin deficiency By Dr Rob Hicks A rare cause of common problems Inherited from both parents Over-inflated air sacs full of holes ... 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, most often it's 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 more rare, but equally important causes of these diseases, such as Alpha-1-antitrypsin deficiency. Inherited from both parents Alpha-1-antitrypsin (A-1-A) is made in the liver. It plays a very important role in the body since it protects cells from being destroyed by other enzymes. Without A-1-A to protect them cells in the lungs and the liver become damaged and therefore can't function properly. Alpha-1-antitrypsin deficiency (A-1-AD) is an uncommon genetic disorder that is believed to affect one person in every ten thousand. However, if someone is to be affected then they must inherit a faulty gene from both their parents - called autosomal recessive inheritance.

75. IComm: File Not Found! alpha1-antitrypsin deficiency (AAT; emphysema and liver disease); Amyotrophiclateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss http://www.icomm.ca/geneinfo/genetests.htm

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

76. Alpha-1-Antitrypsin Deficiency 11571 M alpha1-antitrypsin deficiency 11571 M alpha-1-antitrypsin is a glycoproteinsynthesized in the liver. Its function is inhibition of protease. http://www.echt.chm.msu.edu/courseware/blockII/Pathology/GI-LiverPathology_54.ht

echt home block II pathology gi-liver pathology menu Alpha-1-Antitrypsin Deficiency 11571 M Alpha-1-antitrypsin is a glycoprotein synthesized in the liver. Its function is inhibition of protease. If A1AT is deficient, the proteases can destroy tissue. The disease has a variable manifestation. It may present at a neonatal hepatitis, a micronodular cirrhosis in children, or a macronodular cirrhosis is adults. The condition is autosomal. There are several gene mutations leading to the conditions, resulting in a range of functional deficiencies. Normal phenotype is pi-MM. Pi-SS homozygotes have about 50% normal function. Pi-ZZ homozygotges have only 10% function.

77. HAIN LIFESCIENCE GMBH - Service    - Antitrypsin Deficiency alpha1-antitrypsin and AAT deficiency According to the Alpha One organisationabout 100,000 Europeans suffer from alpha-1-antitrypsin deficiency. http://www.hain-lifescience.com/service/antitrypsindeficiency.html

Home Contact Deutsch investor relations Search: Select: please select: microDent GenoType PST ThromboType Microbiol.diagn. Links Info request Location: Company News Products FAQ/Support Service Links Dental healthcare Coagulation disorders ... Mycobacteria Alpha-1-antitrypsin and AAT deficiency What is alpha-1-antitrypsin and AAT deficiency? Figure: Diagram of pulmonary emphysema and a microsection through the affected lung. How common is AAT deficiency? One in 2000 Europeans have a deficiency in AAT. Although this number may appear to be small, AAT deficiency is nevertheless one of the most frequent potentially lethal hereditary diseases in Europe. Nevertheless this disease is widely underdiagnosed in Europe (WHO Report, Geneva 1996) and on average there is a gap of 5-8 years between the first clinical symptoms and the diagnosis. 12 % of all known AAT-deficient patients had to consult 6-10 doctors on average until a correct diagnosis was made. In the USA and Scandinavia extensive screening examinations have been carried out for many years in order to identify and treat AAT-deficient patients at an early stage. Thus 120 out of 200,000 Swedish neonates had a homozygotic (PiZZ) AAT deficiency and thus a high risk for liver disease. 70 % of these had disorders of liver function and 14 % had developed a severe cirrhosis of the liver at the age of 8.

78. MUSC - Alpha-1 Foundation - Alpha-1 Research Program Sanhaus RA, Newman LS. Occupational exposure risks in individuals withPI*Z alpha(1)antitrypsin deficiency. Am J Respir Crit Care http://www.alphaoneregistry.org/musc/investigators/recent_article_synopsis.html

1. Mayer AS, Stoller JK, Bucher Bartelson B, Ruttenber J, Sanhaus RA, Newman LS. Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency. Am J Respir Crit Care Med 2000, 162:553-8. An important study that was derived from Registry participants was published this spring in the American Review of Respiratory and Critical Care Medicine. This study examined whether occupational exposures to mineral dust, fumes, or smoke contribute to cough or low lung function in Alpha-1. The findings are strong evidence that a clean air environment is important to lung health for individuals with Alpha-1. For full abstract at the National Library of Medicine. 2. Stoller J, Brantley M, Fleming LE, Bean JA, Walsh J. Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. Chest 2000; 118(3):843-8. The design and initial description of Registry participants was just published in the journal, Chest. This description is interesting reading for Registry participants since it shows how diverse a population the Alpha-1 community is and compares the current registry to the National Institute of Health Registry that ended in 1996. For full abstract at the National Library of Medicine. 3.Mullins C.D., Ph.D.; H. Xingue, M.S.; S. Merchant, M.S., MBA; and J.K. Stoller, M.D., FCCP. The Direct Medical Cost of Alpha1-Antitrypsin Deficiency Chest 2001; 119(3): 745-50

79. Alpha-1- Antitrypsin Deficiency (AAT) - DNA Analysis alpha1-antitrypsin (AAT) deficiency is an autosomal recessive disorder resultingin increased risk for early-adult onset of obstructive lung disease and/or http://imgen.bcm.tmc.edu/medgen/tests/dna/alpha1antitrypsin.html

a -1-ANTITRYPSIN DEFICIENCY (AAT) DNA ANALYSIS Reasons for Referral: Prenatal diagnosis for families at high risk. Parental DNA analysis is required to confirm the presence of a Z or S allele prior to prenatal diagnosis. Testing Methodology: Direct DNA analysis is performed on two mutations in the AAT gene using DNA amplification (PCR) and an allele-specific oligonucleotide hybridization methodology. Mutations tested are: E342K (Z allele) and E264V (S allele). Accuracy: Specimen Requirements: Blood: Adults 14 cc; Child: 6 cc; Infant: 2-3 cc Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample. To receive our forms and information about prenatal testing, please contact our laboratory. Normal Range: WBC: 0.5-3.6 nmoles/min/mg protein 3.8-11.0 nmoles/min/mg protein Turnaround Time: 2-3 weeks CPT Codes and Prices DNA Diagnostic Requistion and Standard Consent Form DNA Diagnostic Shipping Information

80.  ALPHA-1-ANTITRYPSIN - Serum  alpha1-antitrypsin - serum Reference Interval 1.7-3.4 g/L (methoddependent). Application Detection of hereditary deficiency. http://www.rcpa.edu.au/pathman/alpha1a2.htm

ALPHA-1-ANTITRYPSIN - serum Specimen: 5 mL blood in plain tube; 5 mL blood in lithium heparin tube for genotyping, if indicated. Method: Immunoassay; IEF for phenotyping. Reference Interval: 1.7-3.4 g/L (method dependent). Application: Detection of hereditary deficiency. Investigation of early onset emphysema; neonatal hepatitis; juvenile cirrhosis; panniculitis. Interpretation: a 1-antitrypsin deficiency is associated with early onset emphysema, hepatitis and cirrhosis and with panniculitis. If deficiency is documented, phenotyping should be done on proband and family. Levels of a 1-antitrypsin are increased in an acute phase response and this may mask a deficiency state; if there is a high clinical suspicion of a 1-antitrypsin deficiency, phenotyping should be performed, regardless of the a 1-antitrypsin level. Genetic variants with at least 100 alleles have been described; genotyping is currently available for two phenotypes associated with disease: S and Z. Genotyping distinguishes ZZ from Z null or SS from S null patients without the need for family studies. Reference: Perlmutter DH.

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 96    Back | 1  | 2  | 3  | 4  | 5  | Next 20