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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

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81. Alpha-1-antitrypsin Deficiency
    Late manifestations of alpha1antitrypsin deficiency alpha-1-antitrypsin deficiency what next? Alpha1-antitrypsin deficiency, cirrhosis and emphysema  
    http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=524

82. Alpha 1-Antitrypsin Inhibitor Therapy
    No authors listed. alpha1-antitrypsin deficiency Registry Study Group. alpha-1-antitrypsin deficiency Memorandum from a WHO meeting.  
    http://www.aetna.com/cpb/data/CPBA0145.html
    
    Extractions: Each benefit plan defines which services are covered, which are excluded, and which are subject to dollar caps or other limits. Members and their providers will need to consult the member's benefit plan to determine if there are any exclusions or other benefit limitations applicable to this service or supply. The conclusion that a particular service or supply is medically necessary does not constitute a representation or warranty that this service or supply is covered (i.e., will be paid for by Aetna) for a particular member. The member's benefit plan determines coverage. Some plans exclude coverage for services or supplies that Aetna considers medically necessary. If there is a discrepancy between this policy and a member's plan of benefits, the benefits plan will govern. In addition, coverage may be mandated by applicable legal requirements of a State, the Federal government or CMS for Medicare and Medicaid members. CMS's Coverage Issues Manual can be found on the following website: http://cms.hhs.gov/manuals/pub06pdf/pub06pdf.asp

83. Arquivos De Gastroenterologia -
    alpha1-antitrypsin deficiency affects mainly the lungs and the liver leading, alpha-1-antitrypsin deficiency is one of the most common genetic  
    http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032001000100012

84. Alpha-1-antitrypsin Deficiency
    alpha1-antitrypsin deficiency alpha-1-antitrypsin (AAT) is a protein that protects the body from damage by its immune cells. deficiency of this protein  
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.264

85. EMedicine - Alpha1-Antitrypsin Deficiency Article By Paul
    Alpha1antitrypsin deficiency - Alpha1-antitrypsin (AAT) deficiency is one of the most common inherited disorders among whites. Its primary manifestation is  
    http://www.emedicine.com/med/topic108.htm

86. Entrez PubMed
    Alpha1antitrypsin deficiency. 2 genetic aspects of alpha(1)-antitrypsin deficiency phenotypes and genetic modifiers of emphysema risk.  
    http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency/show/PubMed
    
    Extractions: My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 50 Review: 11 Items 1 - 20 of 50 of 3 Next DeMeo DL, Silverman EK.

87. Alpha 1 Antitrypsin Deficiency - Lungs: Pulmonary And Respiratory Health And Med
    Focus on Lung Therapies Respiratory Health, including extensive medical information about asthma, lung cancer and pneumonia.  
    http://www.medicinenet.com/alpha_1_antitrypsin_deficiency/article.htm
    
    Extractions: Alpha-1 antitrypsin is a protein that is made in the liver. The liver releases this protein into the bloodstream. Alpha-1 antitrypsin protects the lungs so they can work normally. Without enough alpha-1 antitrypsin, the lungs can be damaged, and this damage may make breathing difficult. In addition, liver damage (hepatitis, cirrhosis) can occur in both children and adults. Alpha-1 antitrypsin deficiency is an inherited (passed down from parents) disorder that causes low levels of, or no alpha-1 antitrypsin in the blood. How do normal lungs work?

88. Alpha1-Antitrypsin (A1AT) Deficiency
    Alpha 1antitrypsin deficiency-a model for conformational diseases. N Engl J Med. The cellular basis for liver injury in alpha 1-antitrypsin deficiency.  
    http://www.clevelandclinicmeded.com/diseasemanagement/gastro/alpha1/alpha1.htm
    
    Extractions: The Cleveland Clinic Foundation There are many inherited metabolic diseases that may have a pathologic impact on the liver. In many cases the liver component of these diseases is only an epiphenomenon of a more generalized systemic disorder. Examples of such epiphenomena are glycogen and lipid storage diseases in which hepatomegaly is a manifestation of the underlying metabolic defect although the liver is not necessarily the major target organ. However, there are three genetically determined diseases in which the liver may be the principal target organ, with manifestations of acute, subacute, or chronic disease that may become evident in early or later life. These are hereditary hemochromatosis (HH) , a major disorder of iron overload; Wilson's disease , a genetic disorder of copper overload; and alpha

89. THE MERCK MANUAL--SECOND HOME EDITION, Alpha1-Antitrypsin Deficiency In Ch. 136,
    Alpha1antitrypsin deficiency is a hereditary disorder in which a lack of the enzyme In alpha1-antitrypsin deficiency, the liver is unable to secrete  
    http://www.merck.com/mmhe/sec10/ch136/ch136f.html
    
    Extractions: var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Liver and Gallbladder Disorders Chapter Fatty Liver, Cirrhosis, and Related Disorders Topics Introduction Alpha -Antitrypsin Deficiency Cirrhosis Fatty Liver Primary Biliary Cirrhosis Primary Sclerosing Cholangitis Alpha -Antitrypsin Deficiency Buy The Book Print This Topic Email This Topic Pronunciations biliary cerebrospinal fluid cirrhosis emphysema Alpha -antitrypsin deficiency is a hereditary disorder in which a lack of the enzyme alpha -antitrypsin may cause lung and liver disease.

90. THE MERCK MANUAL, Sec. 4, Ch. 41, Chronic Liver Disease
    In alpha 1antitrypsin deficiency, the unopposed action of proteases generally alpha 1-antitrypsin deficiency can present as liver disease in children,  
    http://www.merck.com/mrkshared/mmanual/section4/chapter41/41d.jsp

91. Alpha 1 Antitrypsin Deficiency - Patient UK
    Alpha 1 antitrypsin deficiency Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information.  
    http://www.patient.co.uk/showdoc/40001760/
    
    Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Alpha -antitrypsin is an enzyme (a protease, part of a class called serpins) that breaks down the elastase produced by leukocytes that otherwise would damage the connective tissue in the lungs. Deficiency carries with it a predisposition to emphysema and, in an unrelated manner, liver damage that is not caused from a deficiency of alpha - antitrypsin but from a pathological polymerisation of the mutant form within the hepatocytes. Now recognised as a prototype of a whole new class of disorders, the comformational diseases, due to aggregation of aberrant forms of proteins. Most common form is the S mutation, homozygous form - produces a 40% decrease in activity (little clinical significance). Z mutation carried by 4% of Northern Europeans - produces an 85% deficit in the homozygous form. ZZ and SZ carriers do not have sufficient protection of the lungs from proleolytic damage, especially smokers. Other enzymes closely related to alpha -antitrypsin strongly implicated in other diseases related to incorrect aggregation of specific proteins, e.g. neuroserpin in Alzheimer’s disease, CJD.

92. Genetic Modifiers Of Alpha 1-Antitrypsin Deficiency
    Comprehensive clinical trials listing and clinical research contact information for Massachusetts General Hospital, Brigham and Women s Hospital,  
    http://crnet.mgh.harvard.edu/clinical_trials/view_trial.asp?ct_id=668&clinic=&No

93. Alpha1-Antitrypsin Deficiency
    Alpha1antitrypsin (AAT) deficiency is one of the most common hereditary diseases in the Alpha1-antitrypsin deficiency patient education brochure  
    http://www.labcorp.com/genetics_aat/
    
    Extractions: Alpha1-antitrypsin (AAT) deficiency is one of the most common hereditary diseases in the world. AAT deficiency is the most common nonenvironmental cause of emphysema in adults and is also associated with slow, progressive liver cirrhosis. In childhood, AAT deficiency can cause neonatal or juvenile liver disease. AAT deficiency is a modifiable genetic factor leading to chronic obstructive pulmonary disease (COPD), the fourth leading cause of death in the United States. It is estimated that 70,000 to 100,000 Americans have the AAT deficiency. LabCorp offers AAT deficiency tests that can be performed on a blood specimen or a buccal swab. The DNA-based buccal swab test is noninvasive, requiring only the swab of the inside cheek. Characteristics of AAT Deficiency AAT is a protease inhibitor, named for its role in inhibiting trypsin, but its primary function is to inhibit neutrophil elastase (NE). When AAT is deficient, tissue is unprotected from NE and elastic tissue is destroyed. Common features of AAT deficiency include: Idiopathic bronchiectasis COPD (chronic obstructive pulmonary disease) asthma Unexplained liver disease Necrotizing panniculitis C-ANCA (antineutrophil cytoplasmic antibody) positive vasculitis Family history of emphysema, COPD, bronchiectasis, liver disease or panniculitis

94. Hereditary Fructose Intolerance And Alpha 1 Antitrypsin Deficiency -- Hillebrand
    Both alpha 1 antitrypsin deficiency ( alpha 1ATD) and hereditary fructose Sveger T. Liver disease in alpha 1antitrypsin deficiency detected by  
    http://adc.bmjjournals.com/cgi/content/full/83/1/72
    
    Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Hillebrand, G Articles by Santer, R Related Collections Molecular Medicine Arch Dis Child 72-73 ( July ) G Hillebrand a , R Schneppenheim b , H D Oldigs c , R Santer a a Department of Paediatrics, Christian Albrechts University of Kiel, Schwanenweg 20, 24105 Kiel, Germany, b Department of Paediatric Oncology, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany, c

95. Alpha - 1 Antitrypsin Deficiency Awareness Month
    Alpha 1 antitrypsin deficiency Awareness Month. Whereas, Alpha – 1 antitrypsin deficiency (A1AD) is a genetic disease of the liver and lungs resulting  
    http://www.michigan.gov/gov/0,1607,7-168-22678_25488-111547--,00.html
    
    Extractions: Proclamations ... [Text Version] Alpha - 1 Antitrypsin Deficiency Awareness Month Whereas Whereas , A1AD is seen as a liver disease in infants and young children and manifests in adults as a trigger for early-onset emphysema, however it is often misdiagnosed as asthma, chronic bronchitis or early-onset chronic obtrusive pulmonary disease due to a lack of knowledge and understanding of this disease; and, Whereas , A1AD is particularly devastating to families as it strikes at the peak of earning and child-rearing years, and occurs frequently in the United States; and, Whereas , May will be identified as a month for increased awareness, screenings, conferences and events to encourage early detection and organ donation as lung transplantation is an option sought by many patients as the disease progresses; and now therefore be it, Resolved

96. Long-term Treatment Of Alpha1-antitrypsin Deficiency-related Pulmonary Emphysema
    Alpha1antitrypsin (alpha1-AT) deficiency is a genetic disorder characterized by low serum levels of alpha1-AT and a high risk of pulmonary emphysema at a  
    http://erj.ersjournals.com/cgi/content/abstract/11/2/428
    
    Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Wencker, M Articles by Konietzko, N Eur Respir J 1998; 11: 428-433 ERS Journals Ltd M Wencker, N Banik, R Buhl, R Seidel, and N Konietzko 65% pred. Long-term treatment with i.v. alpha1-antitrypsin in patients with severe alpha1-antitrypsin deficiency is feasible and safe. The decline in forced expiratory volume in one second is related to the initial forced expiratory volume in one second as in alpha1-antitrypsin deficient patients not receiving augmentation therapy.

97. HighWire -- Browse Journals - Alpha 1-Antitrypsin Deficiency
    Journals focusing on alpha 1antitrypsin deficiency (in order by highest focus). Radiology info free ISSUES Gut info free ISSUES  
    http://highwire.stanford.edu/lists/topic_dir/608683/618131/624516/624891/624892/
    
    Extractions: Sort by: Alphabet Frequency of articles in alpha 1-Antitrypsin Deficiency Focus of journal on alpha 1-Antitrypsin Deficiency What's this? Journals focusing on alpha 1-Antitrypsin Deficiency (in order by highest focus) Radiology info free ISSUES Gut ... Connective Tissue Diseases alpha 1-Antitrypsin Deficiency Home Adv. Search For Institutions For Publishers ... partners/suppliers

98. Childrens Liver Disease Foundation
    Alpha 1antitrypsin deficiency, Vol. 88Alpha 1-antitrypsin deficiency, Vol. 88. Ronald G. Crystal broad overview of basic and clinical aspects of alpha 1-antitrypsin (alpha1AT) deficiency,  
    http://www.childliverdisease.org/challenges/paristolondon
    
    Extractions: Sorry, the page you requested cannot be found. This site uses scripts to create a rollover effect on the navigation, but dont worry if you have got them disabled, you can access all the content by clicking on the main button, and navigating your way through using the links at the bottom of each content page.

99. Clinical Trial: Alpha1-Antitrypsin Deficiency Registry
    The Alpha 1antitrypsin deficiency Registry Study Group. Asthma features in severe alpha1-antitrypsin deficiency experience of the National Heart,  
    http://www.clinicaltrials.gov/ct/show/NCT00005292
    
    Extractions: Home Search Browse Resources ... About Alpha1-Antitrypsin Deficiency Registry This study has been completed. Sponsored by: National Heart, Lung, and Blood Institute (NHLBI) Information provided by: National Heart, Lung, and Blood Institute (NHLBI) ClinicalTrials.gov Identifier: Purpose To collect data from the 37 participating clinical centers on patients with alpha1-antitrypsin deficiency, including those who received replacement therapy with an intravenous preparation of alpha1-proteinase inhibitor (A1Pi) concentrate. Condition Lung Diseases BACKGROUND: Slow progression of emphysema and lack of an adequate control group have made it difficult to evaluate the proteinase inhibitor through a controlled clinical trial. A patient registry was an alternative method to collect data on the effect of long-term replacement therapy with A1Pi on rate of decline of lung function. The registry also included individuals who did not receive the replacement therapy in order to obtain a better knowledge of the rate of decline of lung function associated with the congenital deficiency for alpha1-antitrypsin.

100. CIMR: Profile: Prof David Lomas
     Laboratory in Cambridge, UK, researching the cause and treatment of alpha1antitrypsin deficiency.  
     http://www.cimr.cam.ac.uk/people/profiles/lomas_david_profile.html
     
     Extractions: Principal investigators Title : Deputy Director, University Chair Contact : Tel: 01223 762817; Secretary: Alison Warrington Tel: 01223 762818; E-mail: dal16@cam.ac.uk Home department : Medicine Serpin polymerisation, antitrypsin deficiency and dementia Most Northern Europeans are homozygous for the M variant of the proteinase inhibitor -antitrypsin but some 4% carry the Z allele (342Glu Lys) which in the homozygote results in a profound plasma deficiency, liver disease and early onset panlobular emphysema. We have shown that Z -antitrypsin are similarly associated with plasma deficiency and the formation of hepatic inclusions: Siiyama (53Ser Phe) and Mmalton (52Phe deleted). Both of these mutants form polymers in vivo . We have shown that this process of polymerisation also accounts for the mild plasma deficiency of the S (264Glu Lys) and I (39Arg Cys) variants of -antitrypsin and it has been described in mutants of other members of the serine proteinase inhibitor or serpin superfamily: C1 -inhibitor, antithrombin and -antichymotrypsin in association with angio-oedema, thrombosis and emphysema respectively. Moreover our recent studies have demonstrated that polymerisation of a neurone-specific serpin, neuroserpin, underlies a novel inclusion body dementia. We have called this dementia Familial Encephalopathy with Neuroserpin Inclusion Bodies or FENIB. The precise intermolecular linkage of the loop-sheet polymers has been investigated by biochemical and biophysical studies and the expression of site directed mutants of

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