نتایج جستجو برای: alpha 1 antitrypsin
تعداد نتایج: 2882244 فیلتر نتایج به سال:
BACKGROUND/AIMS Alpha-1 antitrypsin deficiency causes accumulation of mutant alpha-1 antitrypsin molecules in hepatocytes, and is attributed to severe liver injury even in heterozygous state. However, there is a question as to whether alpha-1 antitrypsin deficiency is only a cause of liver injury or has a worsening effect on the underlying liver disease. We aimed to determine the role of alpha-...
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...
5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency.
Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsi...
Faecal alpha-1-antitrypsin and 51Cr-albumin losses in 42 patients with either gastrointestinal or hepatic disease were compared. The reference range was derived from measurements in 20 controls without gastrointestinal disease. Alpha-1-antitrypsin excretion was increased in patients with excessive 51Cr-albumin loss, and correlations were found between alpha-1-antitrypsin clearance and 51Cr-albu...
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...
A stable polymorphism of the Pi alleles M1, M2 and M3 close to their observed frequencies has been predicted, simply by relating fitness to the proportion of each genotype having alpha 1-antitrypsin (alpha 1-AT) levels greater than 100 mg/100 ml. By further specifying that the rare S and Z genotypes with low alpha 1-AT levels have enhanced fertility, equilibria of the M, S and Z alleles have al...
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...
BACKGROUND Alpha-1 antitrypsin deficiency is a common genetic condition that predisposes to emphysema and liver disease. Alpha-1 antitrypsin deficiency is under-recognized, so affected individuals often experience long delays in diagnosis and visits to multiple physicians before correct diagnosis. Reasoning that inadequate knowledge about alpha-1 antitrypsin deficiency could contribute to this ...
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