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Alpha-1 Antitrypsin Deficiency: more books (16)

Alpha 1 - Antitrypsin Deficiency (Lung Biology in Health and Disease) by Crystal, 1995-10-26
Alpha-1-Antitrypsin Deficiency: Pathophysiology, Diagnosis and Treatment by Bals, 2010-03
Alpha-1 Antitrypsin Deficiency - Clinical Aspects and Management (Uni-Med Science) by Thomas Kohnlein, 2007-02-15
Best practices in: diagnosis and management of alpha-1 antitrypsin deficiency.(Disease/Disorder overview)(Report): An article from: Family Practice News by Leonard Fromer, 2009-04-01
Best practices in: diagnosis and management of alpha-1 antitrypsin deficiency.: An article from: Internal Medicine News by Gale Reference Team, 2009-04-01
Alpha-1 Antitrypsin Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
Pharmacological treatment of alpha 1 antitrypsin deficiency.(RESPIRATORY PHARMACOLOGY): An article from: FOCUS: Journal for Respiratory Care & Sleep Medicine by Doug Gardenhire, 2010-01-01
Alpha 1-antitrypsin deficiency
Alpha 1-Antitrypsin Deficiency: Biology, Pathogenesis, Clinical Manifestations, Therapy by Marcel Dekker, 1996-01-01
[Alpha.sub.1]-antitrypsin deficiency is often overlooked, and can lead to COPD.(Pulmonary Medicine)(chronic obstructive pulmonary disease ): An article from: Family Practice News by Debra Wood, 2004-08-01
Alpha-1 Antitrypsin Deficiency: A History Through the Medical Literature
Understanding alpha-1 antitrypsin deficiency (SuDoc HE 20.3002:AN 8/6) by U.S. Dept of Health and Human Services, 1994
COPD: alph[a.sub.1]-antitrypsin deficiency often overlooked.(chronic obstructive pulmonary disease): An article from: Internal Medicine News
Alpha-1 antitrypsin: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle, MS, CGC Bosworth, 2005

lists with details

NEJM -- Alpha1-Antitrypsin Deficiency -- A Model For Conformational Diseases
Thoracic Society/European Respiratory Society Statement Standards for the Diagnosis and Management of Individuals with alpha1 antitrypsin deficiency.
http://content.nejm.org/cgi/content/short/346/1/45

Extractions: Add to Personal Archive ... Chapters at Harrison's Many biologic processes require a balance between the proteases that initiate the proteolytic pathways essential to life and the inhibitors that limit excessive protease activity. There are many different families of protease inhibitors, but of these just one exceptional family of serine protease inhibitors, the serpins, appears to control the key intracellular and extracellular pathways. Among the serpins, alpha -antitrypsin protects the connective tissue of the lungs from the elastase released by leukocytes, antithrombin ensures the efficient destruction of released coagulation proteases, C1 inhibitor controls complement activation, and the inhibitors of plasmin and its activators
»»Alpha-1-Antitrypsin-Deficiency Reviews««
Understanding alpha1 antitrypsin deficiency (SuDoc HE 20.3002AN 8/6). Published in Unknown Binding by National Institutes of Health, Clinical Center (1994).
http://www.health-issue-books.com/Alaska-Native-Health/Alpha-1-Antitrypsin-Defic

Extractions: Related Subjects: Alaska-Native-Health Book reviews for "Alpha-1-Antitrypsin-Deficiency" sorted by average review score: Alpha 1-Antitrypsin Deficiency: Biology, Pathogenesis, Clinical Manifestations, Therapy (Lung Biology in Health and Disease, Vol 88) Published in Hardcover by Marcel Dekker (26 October, 1995) Author: Ronald G. Crystal Amazon base price: Used price: Average review score: No reviews found. Understanding alpha-1 antitrypsin deficiency (SuDoc HE 20.3002:AN 8/6) Published in Unknown Binding by National Institutes of Health, Clinical Center (1994) Author: U.S. Dept of Health and Human Services Amazon base price: Average review score: No reviews found. Sort by: Rank Last Modified Date Title Path Reverse Sort
Entrez PubMed
alpha1 antitrypsin deficiency with severe pulmonary emphysema. Saito A, Takizawa H, Sato M, Suzuki K, Miyata T, Tazawa T, Nukiwa
http://www.biomedcentral.com/pubmed/15098605

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Alpha-1 Antitrypsin Deficiency
Websites. alpha1 antitrypsin deficiency Association http//www.alpha1.org Information about this non profit organization as well as the disorder, research
http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-

Extractions: Alpha-1 Antitrypsin Deficiency Directory: Guide to Alpha-1 Antitrypsin Deficiency sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Health Conditions and Diseases Genetic Disorders Alpha-1 Antitrypsin Deficiency Websites Alpha-1 Antitrypsin Deficiency Association http://www.alpha1.org
Alpha-1-antitrypsin Deficiency
alpha1-antitrypsin deficiency. alpha-1-antitrypsin deficiency From Online Mendelian Inheritance in Man. alpha-1-antitrypsin deficiency
http://cpmcnet.columbia.edu/dept/gi/alpha1AT.html
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

Extractions: 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
Alpha-1-Antitrypsin Deficiency (AAT)
Alpha 1antitrypsin 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
http://www.rnceus.com/ld/ldalpha.html

Extractions: 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.
What/General Information - A Simplified Description
8871964 E-mail info@alpha1.org. You are at home what is alpha-1? general info a simplified description alpha-1-antitrypsin deficiency - A Simplified
http://www.alpha1.org/what/geninfo_description.htm

Extractions: A Simplified Description..... By Jack Lieberman, M.D. ALPHA-1-ANTITRYPSIN STATEMENTS Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease. Alpha-1 is a blood protein of small size that diffuses into tissue spaces and protects the tissues from being digested by enzymes released from inflammatory cells. When Alpha-1 is deficient or absent, infection or inflammation can destroy tissue cells. This is seen most commonly in the lungs, which are always exposed to the environment (especially to cigarette smoke), and emphysema develops as the lung septae are eaten away. Alpha-1 is produced in the liver and is normally released into the blood. A gene mutation sometimes produces an abnormal form of this protein which gets hung up in the liver and can 92t enter the blood stream. This form (called the Z variant, or PiZ (protease inhibitor Z)) is the most common cause of Alpha-1. Another form PiS is more common but causes a less severe deficiency. Other variants also occur.
Antitrypsin Deficiency
alpha 1antitrypsin deficiency. Two mutant alleles, S and Z, account for most of the disease associated with alpha-1-antitrypsin deficiency.
http://www.people.virginia.edu/~rjh9u/antitryp.html

Extractions: 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
CLF : Alpha1 Antitrypsin Deficiency
trypsin and protect the body s tissues against damage, the liver produces another substance called alpha1-antitrypsin. What is Alpha1 antitrypsin deficiency?
http://www.liver.ca/english/liverdisease/antitrypsin.html

Extractions: 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. Alpha1 antitrypsin deficiency is an inherited condition occurring in approximately one in 5,000 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.
Alpha-1-antitrypsin
alpha1-antitrypsin. alpha-1-antitrypsin deficiency can lead to early onset of emphysema (a degenerative lung disorder) and/or liver failure.
http://gslc.genetics.utah.edu/units/newborn/infosheets/alpha.cfm

Extractions: Home ... Full Medical Reports Alpha-1-antitrypsin Alpha-1-antitrypsin deficiency can lead to early onset of emphysema (a degenerative lung disorder) and/or liver failure. These symptoms usually appear when a person is in their 30's or 40's. Symptoms are more severe in smokers than in nonsmokers. This disorder is caused by a mutation in the proteinase inhibitor (PI) gene on chromosome 14. The normal protein coded for by this gene is involved in tissue repair. Disorder symptoms depend on which type of mutation an individual has in the PI gene. There are more than 70 different alleles of the PI gene. The M allele is the most common non-disease causing (normal) variant. The mutant alleles S and Z are the most common disease-causing variants. Individuals homozygous for the Z allele (PI ZZ) are at high risk for emphysema and liver disease. Individuals homozygous for the S allele (PI SS) do not display symptoms of the disease. However, individuals with one copy of the Z allele and one copy of the S allele (PI SZ) may develop emphysema. Autosomal recessive.
Alpha-1-antitrypsin Deficiency
alpha1-antitrypsin deficiency,. Print this article, alpha-1-antitrypsin deficiency, Fig. 1. -1-antitrypsin deficiency in a young woman.
http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 1/ALPHA 1 ANTITRYP

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alpha-1-antitrypsin deficiency, well established as a factor playing a major role in the development of chronic obstructive pulmonary disease (COPD). a -1-antitrypsin is a protein that blocks the destructive action of neutrophil elastase on lung elastin fibres. Imbalance of lung proteases and antiproteases probably plays a role in the development of emphysema . Individuals with a homozygous deficiency who also smoke have a greatly increased risk of developing severe panlobular emphysema before the age of 35. Such a homozygous deficiency accounts for less than 1% of COPD. Bronchiectasis , particularly in the lower lobes, is encountered in a few patients with a -1-antitrypsin deficiency ( Fig.1 ). As a result, the diagnosis of a 1-antitrypsin deficiency should be considered in patients with emphysema and diffuse cystic bronchiectasis.
Alpha-1-Antitrypsin Deficiency
info@alpha1.org Internet http//www.alpha1.org Children s Liver org Internet http//www.liverfoundation.org alpha1-antitrypsin deficiency Registry Cleveland
http://my.webmd.com/hw/health_guide_atoz/nord53.asp
SupportPath.com: Alpha 1 - Antitrypsin Deficiency
A confidential database of individuals with Alpha1antitrypsin deficiency (alpha-1) or a Registry Website http//www.alphaoneregistry.org/
http://www.supportpath.com/sl_a/alpha_1_antitrypsin_deficiency.htm

Extractions: Description: The Genetic Alliance describes itself as "an international coalition of individuals, professionals and genetic support organizations that are working together to promote healthy lives for everyone impacted by genetics". Website includes links to disease information, info on genetic issues, and detailed descriptions of support groups and organizations.
NORD - National Organization For Rare Disorders, Inc.
Organizations related to alpha1-antitrypsin deficiency alpha-1 Association 3025 e-mail info@alpha1.org Home page http//www.Alpha1.org. alpha-1 Foundation
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpha-1-Antit
Disease Directory : Genetic Disorders : Alpha-1 Antitrypsin Deficiency
in Cambridge, UK, researching the cause and treatment of alpha1antitrypsin deficiency. Virtual Hospital Health Topics AZ alpha-1 antitrypsin
http://www.diseasedirectory.net/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency

Extractions: Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Alpha-1 Antitrypsin Deficiency - Alpha 1 -Antitrypsin Deficiency. Gildea and coworkers used a Markov-based decision model to assess the cost-effectiveness of augmentation Alpha 1 Antitrypsin Deficiency - Lungs: pulmonary and respiratory ... Alpha 1 Awareness Alliance - A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links. alpha 1-Antitrypsin Deficiency - alpha 1-Antitrypsin Deficiency. Image URL Alpha 1 anti trypsin deficiency, Image URL Alpha 1 anti-trypsin deficiency, Image URL Alpha 1 anti-trypsin deficiency, Alpha One Foundation - Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. Alpha-1 Antitrypsin Deficiency - Access to "Alpha-1 Antitrypsin Deficiency" Denied. The content for this course is not currently active. Reason: Course content is Alpha-1 Antitrypsin Deficiency - Categories: Â» Submit Your Site to the Alpha-1 Antitrypsin Deficiency category. Sponsored Alpha-1 Antitrypsin Deficiency Sites. Get
Alpha-1-Antitrypsin Deficiency
Alpha 1antitrypsin (alpha1 AT) deficiency is a common hereditary disorder of Caucasians. The locus is pleiomorphic and 75 alleles have been identified.
http://www.thedoctorsdoctor.com/diseases/a1at_deficiency.htm

Extractions: Background This rare inherited disorder is associated with lung and liver diseases and may be linked to several other diseases including inflammatory bowel disease. Although many patients present in childhood, later onset cases may occur. The gene locus is pleomorphic and over 75 alleles have been identified. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION Alpha 1-antitrypsin deficiency deaths in the United States from 1979-1991. An analysis using multiple-cause mortality data. Browne RJ, Mannino DM, Khoury MJ. Air Pollution and Respiratory Health Branch, National Center for Environmental Health, Centers for Disease Control and Prevention (CDC), Atlanta, USA. Chest 1996 Jul;110(1):78-83 Abstract quote OBJECTIVE: To describe trends of reported alpha 1-antitrypsin deficiency mortality in the United States from 1979-1991. METHODS: We analyzed death certificate reports in the multiple-cause mortality files compiled by the National Center for Health Statistics. RESULTS: Of the 26,866,600 deaths that occurred during the 13-year period, 1,930 had alpha 1-antitrypsin deficiency listed as a cause of death. Over this period, we would have expected 5,400 to 13,400 persons with this condition to die. The age-adjusted mortality rate with reported alpha 1-antitrypsin deficiency listed increased 86%, from 4.3 per 10 million in 1979 to 8.0 per 10 million in 1991. alpha 1-Antitrypsin deficiency mortality rates were higher among whites than among blacks or persons of other races. alpha 1-Antitrypsin deficiency was listed in 2.7% of all deaths with obstructive lung disease among persons aged 35-44 years old and in 1.2% of all deaths listing hepatic disease among children aged 1 to 14 years old.
ALPHA-1 - ANTITRYPSIN DEFICIENCY
alpha1 - antitrypsin deficiency is a hereditary disease that may lead to hepatitis and cirrhosis. It is the most common genetic
http://www.gastro.com/html/liverdisease/antitrypsin_deficiency.shtml

Extractions: 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.
Clinical Trial: Alpha1-antitrypsin Deficiency Registry
No authors listed Survival and FEV1 decline in individuals with severe deficiency of alpha1antitrypsin. The alpha-1-antitrypsin deficiency Registry Study
http://www.clinicaltrials.gov/ct/show/NCT00005292?order=19
NEJM -- Liver Disease In Alpha1-antitrypsin Deficiency Detected By Screening Of
alpha1-antitrypsin deficiency phenotype SZ. Gut 50 730-732 Abstract Full Text; Carrell, RW, Lomas, DA (2002). Alpha1-antitrypsin deficiency A Model for
http://content.nejm.org/cgi/content/abstract/294/24/1316

Extractions: This article has been cited by other articles: Thorax [Abstract] [Full Text] Chest [Abstract] [Full Text] Thorax [Abstract] [Full Text] J Immunol [Abstract] [Full Text] Thorax [Abstract] [Full Text] Thorax [Full Text] J. Biol. Chem. [Abstract] [Full Text] (2003). American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency. Am J Respir Crit Care Med [Full Text] Green, C., Brown, G., Dafforn, T. R., Reichhart, J.-M., Morley, T., Lomas, D. A., Gubb, D. (2003). Drosophila necrotic mutations mirror disease-associated variants of human serpins. Development [Abstract] [Full Text] J. Clin. Invest. [Full Text] Teckman, J. H., An, J.-K., Loethen, S., Perlmutter, D. H. (2002). Fasting in alpha 1-antitrypsin deficient liver: constitutive activation of autophagy.

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