نتایج جستجو برای: 1 antitrypsin deficiency

تعداد نتایج: 2853876  

Journal: :Journal of the Royal Society of Medicine 1990

Journal: :Respiratory care 2014
James K Stoller Charlie Strange Laura Schwarz Thomas J Kallstrom Robert L Chatburn

BACKGROUND Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to...

Journal: :Journal of insurance medicine 1988
D J Harris

Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.

Journal: :Respiratory care 2003
James K Stoller

Alpha-1 antitrypsin deficiency is a common but under-recognized condition on which respiratory therapists can have a large impact. A key recent development is the issuance of an international evidence-based standards document regarding diagnosis and management of individuals with alpha-1 antitrypsin deficiency. This report summarizes that standards document, which recommends more widespread tes...

2011
James K Stoller Helen Hollingsworth

INTRODUCTION — Alpha-1 antitrypsin (AAT) deficiency is a clinically underrecognized inherited disorder affecting the lung, liver, and rarely skin. The characteristics of the pulmonary manifestations of this disorder will be reviewed here [1-4]. Extrapulmonary disease and therapy are discussed separately. (See "Extrapulmonary manifestations of alpha-1 antitrypsin deficiency" and "Treatment of al...

Journal: :Pneumologia 2012
Danielius Serapinas Raimundas Sakalauskas

BACKGROUND AND OBJECTIVE Alpha-1 antitrypsin deficiency is an underdiagnosed condition in patients with chronic obstructive pulmonary disease. Diagnosis of this genetic condition is confirmed by genetic verification of pathology, but for screening purposes quantitative methods can be useful. The aim of our study was to evaluate sensitivity and specificity of quantitative methods for alpha-1 ant...

Journal: :COPD 2006
Frederick J de Serres Ignacio Blanco Enrique Fernández-Bustillo

Alpha-1 antitrypsin deficiency is known as a significant genetic risk factor for COPD for carriers of phenotype PIMZ, and for phenotypes PIZZ and PISZ. Genetic epidemiological studies for alpha-1 antitrypsin deficiency conducted by others on both COPD patients and concurrent non-COPD controls were used to estimate the risk factors for all six phenotypic classes (namely, the normal phenotype PIM...

2012
Danielius Serapinas Brigita Sitkauskiene Raimundas Sakalauskas

INTRODUCTION Chronic obstructive pulmonary disease (COPD) has been recently defined as a systemic pulmonary inflammatory disease, and congenital α1 antitrypsin deficiency is one of the well-established genetic risk factors for chronic obstructive pulmonary disease. The aim of our study was to evaluate the possible associations of α1 antitrypsin with inflammatory markers - CRP, sCD14, TNF-α, sTN...

2014
A. Dickens Dawn L. DeMeo Juan Perez S. Tamir Rashid James Day Adriana Ordoñez J. Marciniak Imran Haq Alan F. Barker Edward J. Campbell Edward Eden Noel G. McElvaney Stephen I. Rennard Robert A. Sandhaus James M. Stocks James K. Stoller Charlie Strange Gerard Turino Farshid N. Rouhani Mark Brantly David A. Lomas

Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...

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